SNP Links for Protein (Select 578824290) - SNP

Links from Protein

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Select item 14904762891.

rs1490476289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:43754484 (GRCh38)
12:44148287 (GRCh37)
Canonical SPDI:: NC_000012.12:43754483:T:G
Gene:: PUS7L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.43754484T>G, NC_000012.11:g.44148287T>G, NG_009892.1:g.541T>G, NM_031292.5:c.762A>C, NM_031292.4:c.762A>C, XM_011538790.4:c.789A>C, XM_011538790.3:c.789A>C, XM_011538790.2:c.789A>C, XM_011538790.1:c.789A>C, NM_001098614.3:c.762A>C, NM_001098614.2:c.762A>C, XM_011538791.3:c.798A>C, XM_011538791.2:c.798A>C, XM_011538791.1:c.798A>C, XM_006719623.3:c.798A>C, XM_006719623.2:c.798A>C, XM_006719623.1:c.798A>C, NM_001098615.2:c.762A>C, NM_001098615.1:c.762A>C, XR_944748.2:n.839A>C, XR_944748.1:n.866A>C, XM_047429625.1:c.789A>C, XM_047429626.1:c.798A>C, XM_047429627.1:c.798A>C

Select item 14899929502.

rs1489992950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:43755250 (GRCh38)
12:44149053 (GRCh37)
Canonical SPDI:: NC_000012.12:43755249:C:G,NC_000012.12:43755249:C:T
Gene:: PUS7L (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.43755250C>G, NC_000012.12:g.43755250C>T, NC_000012.11:g.44149053C>G, NC_000012.11:g.44149053C>T, NG_009892.1:g.1307C>G, NG_009892.1:g.1307C>T, NM_031292.5:c.-5G>C, NM_031292.5:c.-5G>A, NM_031292.4:c.-5G>C, NM_031292.4:c.-5G>A, XM_011538790.4:c.23G>C, XM_011538790.4:c.23G>A, XM_011538790.3:c.23G>C, XM_011538790.3:c.23G>A, XM_011538790.2:c.23G>C, XM_011538790.2:c.23G>A, XM_011538790.1:c.23G>C, XM_011538790.1:c.23G>A, NM_001098614.3:c.-5G>C, NM_001098614.3:c.-5G>A, NM_001098614.2:c.-5G>C, NM_001098614.2:c.-5G>A, XM_011538791.3:c.32G>C, XM_011538791.3:c.32G>A, XM_011538791.2:c.32G>C, XM_011538791.2:c.32G>A, XM_011538791.1:c.32G>C, XM_011538791.1:c.32G>A, XM_006719623.3:c.32G>C, XM_006719623.3:c.32G>A, XM_006719623.2:c.32G>C, XM_006719623.2:c.32G>A, XM_006719623.1:c.32G>C, XM_006719623.1:c.32G>A, NM_001098615.2:c.-5G>C, NM_001098615.2:c.-5G>A, NM_001098615.1:c.-5G>C, NM_001098615.1:c.-5G>A, XR_944748.2:n.73G>C, XR_944748.2:n.73G>A, XR_944748.1:n.100G>C, XR_944748.1:n.100G>A, XM_047429625.1:c.23G>C, XM_047429625.1:c.23G>A, XM_047429626.1:c.32G>C, XM_047429626.1:c.32G>A, XM_047429627.1:c.32G>C, XM_047429627.1:c.32G>A, XP_011537092.1:p.Arg8Thr, XP_011537092.1:p.Arg8Lys, XP_011537093.1:p.Arg11Thr, XP_011537093.1:p.Arg11Lys, XP_006719686.1:p.Arg11Thr, XP_006719686.1:p.Arg11Lys, XP_047285581.1:p.Arg8Thr, XP_047285581.1:p.Arg8Lys, XP_047285582.1:p.Arg11Thr, XP_047285582.1:p.Arg11Lys, XP_047285583.1:p.Arg11Thr, XP_047285583.1:p.Arg11Lys

Select item 14892121443.

rs1489212144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:43746058 (GRCh38)
12:44139861 (GRCh37)
Canonical SPDI:: NC_000012.12:43746057:T:A
Gene:: PUS7L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.43746058T>A, NC_000012.11:g.44139861T>A, NM_031292.5:c.1251A>T, NM_031292.4:c.1251A>T, XM_011538790.4:c.1278A>T, XM_011538790.3:c.1278A>T, XM_011538790.2:c.1278A>T, XM_011538790.1:c.1278A>T, NM_001098614.3:c.1251A>T, NM_001098614.2:c.1251A>T, XM_011538791.3:c.1287A>T, XM_011538791.2:c.1287A>T, XM_011538791.1:c.1287A>T, XM_006719623.3:c.1287A>T, XM_006719623.2:c.1287A>T, XM_006719623.1:c.1287A>T, NM_001098615.2:c.1251A>T, NM_001098615.1:c.1251A>T, NM_001271826.2:c.312A>T, NM_001271826.1:c.312A>T, XR_944748.2:n.1328A>T, XR_944748.1:n.1355A>T, XM_047429625.1:c.1278A>T, XM_047429626.1:c.1287A>T, XM_047429627.1:c.1287A>T

Select item 14889414594.

rs1488941459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:43730566 (GRCh38)
12:44124369 (GRCh37)
Canonical SPDI:: NC_000012.12:43730565:C:G
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.43730566C>G, NC_000012.11:g.44124369C>G, NM_031292.5:c.1916G>C, NM_031292.4:c.1916G>C, XM_011538790.4:c.1943G>C, XM_011538790.3:c.1943G>C, XM_011538790.2:c.1943G>C, XM_011538790.1:c.1943G>C, NM_001098614.3:c.1916G>C, NM_001098614.2:c.1916G>C, XM_011538791.3:c.1853G>C, XM_011538791.2:c.1853G>C, XM_011538791.1:c.1853G>C, XM_006719623.3:c.1589G>C, XM_006719623.2:c.1589G>C, XM_006719623.1:c.1589G>C, NM_001098615.2:c.1916G>C, NM_001098615.1:c.1916G>C, NM_001271826.2:c.977G>C, NM_001271826.1:c.977G>C, XM_047429625.1:c.1844G>C, NP_112582.3:p.Gly639Ala, XP_011537092.1:p.Gly648Ala, NP_001092084.1:p.Gly639Ala, XP_011537093.1:p.Gly618Ala, XP_006719686.1:p.Gly530Ala, NP_001092085.1:p.Gly639Ala, NP_001258755.1:p.Gly326Ala, XP_047285581.1:p.Gly615Ala

Select item 14884630805.

rs1488463080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:43754558 (GRCh38)
12:44148361 (GRCh37)
Canonical SPDI:: NC_000012.12:43754557:T:A
Gene:: PUS7L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00018/3 (TOMMO)
HGVS:: NC_000012.12:g.43754558T>A, NC_000012.11:g.44148361T>A, NG_009892.1:g.615T>A, NM_031292.5:c.688A>T, NM_031292.4:c.688A>T, XM_011538790.4:c.715A>T, XM_011538790.3:c.715A>T, XM_011538790.2:c.715A>T, XM_011538790.1:c.715A>T, NM_001098614.3:c.688A>T, NM_001098614.2:c.688A>T, XM_011538791.3:c.724A>T, XM_011538791.2:c.724A>T, XM_011538791.1:c.724A>T, XM_006719623.3:c.724A>T, XM_006719623.2:c.724A>T, XM_006719623.1:c.724A>T, NM_001098615.2:c.688A>T, NM_001098615.1:c.688A>T, XR_944748.2:n.765A>T, XR_944748.1:n.792A>T, XM_047429625.1:c.715A>T, XM_047429626.1:c.724A>T, XM_047429627.1:c.724A>T, NP_112582.3:p.Lys230Ter, XP_011537092.1:p.Lys239Ter, NP_001092084.1:p.Lys230Ter, XP_011537093.1:p.Lys242Ter, XP_006719686.1:p.Lys242Ter, NP_001092085.1:p.Lys230Ter, XP_047285581.1:p.Lys239Ter, XP_047285582.1:p.Lys242Ter, XP_047285583.1:p.Lys242Ter

Select item 14883587206.

rs1488358720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:43754911 (GRCh38)
12:44148714 (GRCh37)
Canonical SPDI:: NC_000012.12:43754910:A:G
Gene:: PUS7L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.43754911A>G, NC_000012.11:g.44148714A>G, NG_009892.1:g.968A>G, NM_031292.5:c.335T>C, NM_031292.4:c.335T>C, XM_011538790.4:c.362T>C, XM_011538790.3:c.362T>C, XM_011538790.2:c.362T>C, XM_011538790.1:c.362T>C, NM_001098614.3:c.335T>C, NM_001098614.2:c.335T>C, XM_011538791.3:c.371T>C, XM_011538791.2:c.371T>C, XM_011538791.1:c.371T>C, XM_006719623.3:c.371T>C, XM_006719623.2:c.371T>C, XM_006719623.1:c.371T>C, NM_001098615.2:c.335T>C, NM_001098615.1:c.335T>C, XR_944748.2:n.412T>C, XR_944748.1:n.439T>C, XM_047429625.1:c.362T>C, XM_047429626.1:c.371T>C, XM_047429627.1:c.371T>C, NP_112582.3:p.Val112Ala, XP_011537092.1:p.Val121Ala, NP_001092084.1:p.Val112Ala, XP_011537093.1:p.Val124Ala, XP_006719686.1:p.Val124Ala, NP_001092085.1:p.Val112Ala, XP_047285581.1:p.Val121Ala, XP_047285582.1:p.Val124Ala, XP_047285583.1:p.Val124Ala

Select item 14878945667.

rs1487894566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:43755144 (GRCh38)
12:44148947 (GRCh37)
Canonical SPDI:: NC_000012.12:43755143:A:G
Gene:: PUS7L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.43755144A>G, NC_000012.11:g.44148947A>G, NG_009892.1:g.1201A>G, NM_031292.5:c.102T>C, NM_031292.4:c.102T>C, XM_011538790.4:c.129T>C, XM_011538790.3:c.129T>C, XM_011538790.2:c.129T>C, XM_011538790.1:c.129T>C, NM_001098614.3:c.102T>C, NM_001098614.2:c.102T>C, XM_011538791.3:c.138T>C, XM_011538791.2:c.138T>C, XM_011538791.1:c.138T>C, XM_006719623.3:c.138T>C, XM_006719623.2:c.138T>C, XM_006719623.1:c.138T>C, NM_001098615.2:c.102T>C, NM_001098615.1:c.102T>C, XR_944748.2:n.179T>C, XR_944748.1:n.206T>C, XM_047429625.1:c.129T>C, XM_047429626.1:c.138T>C, XM_047429627.1:c.138T>C

Select item 14868809278.

rs1486880927 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 12:43754828 (GRCh38)
12:44148632 (GRCh37)
Canonical SPDI:: NC_000012.12:43754828:ATTATT:ATTATTATT
Gene:: PUS7L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency
MAF:: ATT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.43754829ATT[3], NC_000012.11:g.44148632ATT[3], NG_009892.1:g.886ATT[3], NM_031292.5:c.412AAT[3], NM_031292.4:c.412AAT[3], XM_011538790.4:c.439AAT[3], XM_011538790.3:c.439AAT[3], XM_011538790.2:c.439AAT[3], XM_011538790.1:c.439AAT[3], NM_001098614.3:c.412AAT[3], NM_001098614.2:c.412AAT[3], XM_011538791.3:c.448AAT[3], XM_011538791.2:c.448AAT[3], XM_011538791.1:c.448AAT[3], XM_006719623.3:c.448AAT[3], XM_006719623.2:c.448AAT[3], XM_006719623.1:c.448AAT[3], NM_001098615.2:c.412AAT[3], NM_001098615.1:c.412AAT[3], XR_944748.2:n.489AAT[3], XR_944748.1:n.516AAT[3], XM_047429625.1:c.439AAT[3], XM_047429626.1:c.448AAT[3], XM_047429627.1:c.448AAT[3], NP_112582.3:p.Asn139dup, XP_011537092.1:p.Asn148dup, NP_001092084.1:p.Asn139dup, XP_011537093.1:p.Asn151dup, XP_006719686.1:p.Asn151dup, NP_001092085.1:p.Asn139dup, XP_047285581.1:p.Asn148dup, XP_047285582.1:p.Asn151dup, XP_047285583.1:p.Asn151dup

Select item 14826474819.

rs1482647481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:43730447 (GRCh38)
12:44124250 (GRCh37)
Canonical SPDI:: NC_000012.12:43730446:T:C
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.43730447T>C, NC_000012.11:g.44124250T>C, NM_031292.5:c.2035A>G, NM_031292.4:c.2035A>G, XM_011538790.4:c.2062A>G, XM_011538790.3:c.2062A>G, XM_011538790.2:c.2062A>G, XM_011538790.1:c.2062A>G, NM_001098614.3:c.2035A>G, NM_001098614.2:c.2035A>G, XM_011538791.3:c.1972A>G, XM_011538791.2:c.1972A>G, XM_011538791.1:c.1972A>G, XM_006719623.3:c.1708A>G, XM_006719623.2:c.1708A>G, XM_006719623.1:c.1708A>G, NM_001098615.2:c.2035A>G, NM_001098615.1:c.2035A>G, NM_001271826.2:c.1096A>G, NM_001271826.1:c.1096A>G, XM_047429625.1:c.1963A>G, NP_112582.3:p.Ile679Val, XP_011537092.1:p.Ile688Val, NP_001092084.1:p.Ile679Val, XP_011537093.1:p.Ile658Val, XP_006719686.1:p.Ile570Val, NP_001092085.1:p.Ile679Val, NP_001258755.1:p.Ile366Val, XP_047285581.1:p.Ile655Val

Select item 148255678610.

rs1482556786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:43748586 (GRCh38)
12:44142389 (GRCh37)
Canonical SPDI:: NC_000012.12:43748585:G:A
Gene:: PUS7L (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.43748586G>A, NC_000012.11:g.44142389G>A, NM_031292.5:c.934C>T, NM_031292.4:c.934C>T, XM_011538790.4:c.961C>T, XM_011538790.3:c.961C>T, XM_011538790.2:c.961C>T, XM_011538790.1:c.961C>T, NM_001098614.3:c.934C>T, NM_001098614.2:c.934C>T, XM_011538791.3:c.970C>T, XM_011538791.2:c.970C>T, XM_011538791.1:c.970C>T, XM_006719623.3:c.970C>T, XM_006719623.2:c.970C>T, XM_006719623.1:c.970C>T, NM_001098615.2:c.934C>T, NM_001098615.1:c.934C>T, NM_001271826.2:c.-6C>T, NM_001271826.1:c.-6C>T, XR_944748.2:n.1011C>T, XR_944748.1:n.1038C>T, XM_047429625.1:c.961C>T, XM_047429626.1:c.970C>T, XM_047429627.1:c.970C>T

Select item 148246248211.

rs1482462482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:43731737 (GRCh38)
12:44125540 (GRCh37)
Canonical SPDI:: NC_000012.12:43731736:C:T
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.43731737C>T, NC_000012.11:g.44125540C>T, NM_031292.5:c.1747G>A, NM_031292.4:c.1747G>A, XM_011538790.4:c.1774G>A, XM_011538790.3:c.1774G>A, XM_011538790.2:c.1774G>A, XM_011538790.1:c.1774G>A, NM_001098614.3:c.1747G>A, NM_001098614.2:c.1747G>A, XM_011538791.3:c.1684G>A, XM_011538791.2:c.1684G>A, XM_011538791.1:c.1684G>A, XM_006719623.3:c.1420G>A, XM_006719623.2:c.1420G>A, XM_006719623.1:c.1420G>A, NM_001098615.2:c.1747G>A, NM_001098615.1:c.1747G>A, NM_001271826.2:c.808G>A, NM_001271826.1:c.808G>A, XM_047429625.1:c.1675G>A, NP_112582.3:p.Glu583Lys, XP_011537092.1:p.Glu592Lys, NP_001092084.1:p.Glu583Lys, XP_011537093.1:p.Glu562Lys, XP_006719686.1:p.Glu474Lys, NP_001092085.1:p.Glu583Lys, NP_001258755.1:p.Glu270Lys, XP_047285581.1:p.Glu559Lys

Select item 147879549512.

rs1478795495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:43746177 (GRCh38)
12:44139980 (GRCh37)
Canonical SPDI:: NC_000012.12:43746176:C:T
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.43746177C>T, NC_000012.11:g.44139980C>T, NM_031292.5:c.1132G>A, NM_031292.4:c.1132G>A, XM_011538790.4:c.1159G>A, XM_011538790.3:c.1159G>A, XM_011538790.2:c.1159G>A, XM_011538790.1:c.1159G>A, NM_001098614.3:c.1132G>A, NM_001098614.2:c.1132G>A, XM_011538791.3:c.1168G>A, XM_011538791.2:c.1168G>A, XM_011538791.1:c.1168G>A, XM_006719623.3:c.1168G>A, XM_006719623.2:c.1168G>A, XM_006719623.1:c.1168G>A, NM_001098615.2:c.1132G>A, NM_001098615.1:c.1132G>A, NM_001271826.2:c.193G>A, NM_001271826.1:c.193G>A, XR_944748.2:n.1209G>A, XR_944748.1:n.1236G>A, XM_047429625.1:c.1159G>A, XM_047429626.1:c.1168G>A, XM_047429627.1:c.1168G>A, NP_112582.3:p.Val378Ile, XP_011537092.1:p.Val387Ile, NP_001092084.1:p.Val378Ile, XP_011537093.1:p.Val390Ile, XP_006719686.1:p.Val390Ile, NP_001092085.1:p.Val378Ile, NP_001258755.1:p.Val65Ile, XP_047285581.1:p.Val387Ile, XP_047285582.1:p.Val390Ile, XP_047285583.1:p.Val390Ile

Select item 147773611113.

rs1477736111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:43755227 (GRCh38)
12:44149030 (GRCh37)
Canonical SPDI:: NC_000012.12:43755226:A:G
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.43755227A>G, NC_000012.11:g.44149030A>G, NG_009892.1:g.1284A>G, NM_031292.5:c.19T>C, NM_031292.4:c.19T>C, XM_011538790.4:c.46T>C, XM_011538790.3:c.46T>C, XM_011538790.2:c.46T>C, XM_011538790.1:c.46T>C, NM_001098614.3:c.19T>C, NM_001098614.2:c.19T>C, XM_011538791.3:c.55T>C, XM_011538791.2:c.55T>C, XM_011538791.1:c.55T>C, XM_006719623.3:c.55T>C, XM_006719623.2:c.55T>C, XM_006719623.1:c.55T>C, NM_001098615.2:c.19T>C, NM_001098615.1:c.19T>C, XR_944748.2:n.96T>C, XR_944748.1:n.123T>C, XM_047429625.1:c.46T>C, XM_047429626.1:c.55T>C, XM_047429627.1:c.55T>C, NP_112582.3:p.Tyr7His, XP_011537092.1:p.Tyr16His, NP_001092084.1:p.Tyr7His, XP_011537093.1:p.Tyr19His, XP_006719686.1:p.Tyr19His, NP_001092085.1:p.Tyr7His, XP_047285581.1:p.Tyr16His, XP_047285582.1:p.Tyr19His, XP_047285583.1:p.Tyr19His

Select item 147731272314.

rs1477312723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:43730530 (GRCh38)
12:44124333 (GRCh37)
Canonical SPDI:: NC_000012.12:43730529:A:T
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.43730530A>T, NC_000012.11:g.44124333A>T, NM_031292.5:c.1952T>A, NM_031292.4:c.1952T>A, XM_011538790.4:c.1979T>A, XM_011538790.3:c.1979T>A, XM_011538790.2:c.1979T>A, XM_011538790.1:c.1979T>A, NM_001098614.3:c.1952T>A, NM_001098614.2:c.1952T>A, XM_011538791.3:c.1889T>A, XM_011538791.2:c.1889T>A, XM_011538791.1:c.1889T>A, XM_006719623.3:c.1625T>A, XM_006719623.2:c.1625T>A, XM_006719623.1:c.1625T>A, NM_001098615.2:c.1952T>A, NM_001098615.1:c.1952T>A, NM_001271826.2:c.1013T>A, NM_001271826.1:c.1013T>A, XM_047429625.1:c.1880T>A, NP_112582.3:p.Leu651His, XP_011537092.1:p.Leu660His, NP_001092084.1:p.Leu651His, XP_011537093.1:p.Leu630His, XP_006719686.1:p.Leu542His, NP_001092085.1:p.Leu651His, NP_001258755.1:p.Leu338His, XP_047285581.1:p.Leu627His

Select item 147664661615.

rs1476646616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:43754670 (GRCh38)
12:44148473 (GRCh37)
Canonical SPDI:: NC_000012.12:43754669:G:T
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.43754670G>T, NC_000012.11:g.44148473G>T, NG_009892.1:g.727G>T, NM_031292.5:c.576C>A, NM_031292.4:c.576C>A, XM_011538790.4:c.603C>A, XM_011538790.3:c.603C>A, XM_011538790.2:c.603C>A, XM_011538790.1:c.603C>A, NM_001098614.3:c.576C>A, NM_001098614.2:c.576C>A, XM_011538791.3:c.612C>A, XM_011538791.2:c.612C>A, XM_011538791.1:c.612C>A, XM_006719623.3:c.612C>A, XM_006719623.2:c.612C>A, XM_006719623.1:c.612C>A, NM_001098615.2:c.576C>A, NM_001098615.1:c.576C>A, XR_944748.2:n.653C>A, XR_944748.1:n.680C>A, XM_047429625.1:c.603C>A, XM_047429626.1:c.612C>A, XM_047429627.1:c.612C>A, NP_112582.3:p.Asn192Lys, XP_011537092.1:p.Asn201Lys, NP_001092084.1:p.Asn192Lys, XP_011537093.1:p.Asn204Lys, XP_006719686.1:p.Asn204Lys, NP_001092085.1:p.Asn192Lys, XP_047285581.1:p.Asn201Lys, XP_047285582.1:p.Asn204Lys, XP_047285583.1:p.Asn204Lys

Select item 147427212216.

rs1474272122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:43746046 (GRCh38)
12:44139849 (GRCh37)
Canonical SPDI:: NC_000012.12:43746045:C:G,NC_000012.12:43746045:C:T
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.43746046C>G, NC_000012.12:g.43746046C>T, NC_000012.11:g.44139849C>G, NC_000012.11:g.44139849C>T, NM_031292.5:c.1263G>C, NM_031292.5:c.1263G>A, NM_031292.4:c.1263G>C, NM_031292.4:c.1263G>A, XM_011538790.4:c.1290G>C, XM_011538790.4:c.1290G>A, XM_011538790.3:c.1290G>C, XM_011538790.3:c.1290G>A, XM_011538790.2:c.1290G>C, XM_011538790.2:c.1290G>A, XM_011538790.1:c.1290G>C, XM_011538790.1:c.1290G>A, NM_001098614.3:c.1263G>C, NM_001098614.3:c.1263G>A, NM_001098614.2:c.1263G>C, NM_001098614.2:c.1263G>A, XM_011538791.3:c.1299G>C, XM_011538791.3:c.1299G>A, XM_011538791.2:c.1299G>C, XM_011538791.2:c.1299G>A, XM_011538791.1:c.1299G>C, XM_011538791.1:c.1299G>A, XM_006719623.3:c.1299G>C, XM_006719623.3:c.1299G>A, XM_006719623.2:c.1299G>C, XM_006719623.2:c.1299G>A, XM_006719623.1:c.1299G>C, XM_006719623.1:c.1299G>A, NM_001098615.2:c.1263G>C, NM_001098615.2:c.1263G>A, NM_001098615.1:c.1263G>C, NM_001098615.1:c.1263G>A, NM_001271826.2:c.324G>C, NM_001271826.2:c.324G>A, NM_001271826.1:c.324G>C, NM_001271826.1:c.324G>A, XR_944748.2:n.1340G>C, XR_944748.2:n.1340G>A, XR_944748.1:n.1367G>C, XR_944748.1:n.1367G>A, XM_047429625.1:c.1290G>C, XM_047429625.1:c.1290G>A, XM_047429626.1:c.1299G>C, XM_047429626.1:c.1299G>A, XM_047429627.1:c.1299G>C, XM_047429627.1:c.1299G>A, NP_112582.3:p.Lys421Asn, XP_011537092.1:p.Lys430Asn, NP_001092084.1:p.Lys421Asn, XP_011537093.1:p.Lys433Asn, XP_006719686.1:p.Lys433Asn, NP_001092085.1:p.Lys421Asn, NP_001258755.1:p.Lys108Asn, XP_047285581.1:p.Lys430Asn, XP_047285582.1:p.Lys433Asn, XP_047285583.1:p.Lys433Asn

Select item 147106125517.

rs1471061255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:43754491 (GRCh38)
12:44148294 (GRCh37)
Canonical SPDI:: NC_000012.12:43754490:T:G
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000028/7 (GnomAD_exomes)
G=0.00003/8 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.43754491T>G, NC_000012.11:g.44148294T>G, NG_009892.1:g.548T>G, NM_031292.5:c.755A>C, NM_031292.4:c.755A>C, XM_011538790.4:c.782A>C, XM_011538790.3:c.782A>C, XM_011538790.2:c.782A>C, XM_011538790.1:c.782A>C, NM_001098614.3:c.755A>C, NM_001098614.2:c.755A>C, XM_011538791.3:c.791A>C, XM_011538791.2:c.791A>C, XM_011538791.1:c.791A>C, XM_006719623.3:c.791A>C, XM_006719623.2:c.791A>C, XM_006719623.1:c.791A>C, NM_001098615.2:c.755A>C, NM_001098615.1:c.755A>C, XR_944748.2:n.832A>C, XR_944748.1:n.859A>C, XM_047429625.1:c.782A>C, XM_047429626.1:c.791A>C, XM_047429627.1:c.791A>C, NP_112582.3:p.Lys252Thr, XP_011537092.1:p.Lys261Thr, NP_001092084.1:p.Lys252Thr, XP_011537093.1:p.Lys264Thr, XP_006719686.1:p.Lys264Thr, NP_001092085.1:p.Lys252Thr, XP_047285581.1:p.Lys261Thr, XP_047285582.1:p.Lys264Thr, XP_047285583.1:p.Lys264Thr

Select item 147105687318.

rs1471056873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:43755100 (GRCh38)
12:44148903 (GRCh37)
Canonical SPDI:: NC_000012.12:43755099:G:T
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.43755100G>T, NC_000012.11:g.44148903G>T, NG_009892.1:g.1157G>T, NM_031292.5:c.146C>A, NM_031292.4:c.146C>A, XM_011538790.4:c.173C>A, XM_011538790.3:c.173C>A, XM_011538790.2:c.173C>A, XM_011538790.1:c.173C>A, NM_001098614.3:c.146C>A, NM_001098614.2:c.146C>A, XM_011538791.3:c.182C>A, XM_011538791.2:c.182C>A, XM_011538791.1:c.182C>A, XM_006719623.3:c.182C>A, XM_006719623.2:c.182C>A, XM_006719623.1:c.182C>A, NM_001098615.2:c.146C>A, NM_001098615.1:c.146C>A, XR_944748.2:n.223C>A, XR_944748.1:n.250C>A, XM_047429625.1:c.173C>A, XM_047429626.1:c.182C>A, XM_047429627.1:c.182C>A, NP_112582.3:p.Thr49Asn, XP_011537092.1:p.Thr58Asn, NP_001092084.1:p.Thr49Asn, XP_011537093.1:p.Thr61Asn, XP_006719686.1:p.Thr61Asn, NP_001092085.1:p.Thr49Asn, XP_047285581.1:p.Thr58Asn, XP_047285582.1:p.Thr61Asn, XP_047285583.1:p.Thr61Asn

Select item 146893369119.

rs1468933691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:43754769 (GRCh38)
12:44148572 (GRCh37)
Canonical SPDI:: NC_000012.12:43754768:A:G
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.43754769A>G, NC_000012.11:g.44148572A>G, NG_009892.1:g.826A>G, NM_031292.5:c.477T>C, NM_031292.4:c.477T>C, XM_011538790.4:c.504T>C, XM_011538790.3:c.504T>C, XM_011538790.2:c.504T>C, XM_011538790.1:c.504T>C, NM_001098614.3:c.477T>C, NM_001098614.2:c.477T>C, XM_011538791.3:c.513T>C, XM_011538791.2:c.513T>C, XM_011538791.1:c.513T>C, XM_006719623.3:c.513T>C, XM_006719623.2:c.513T>C, XM_006719623.1:c.513T>C, NM_001098615.2:c.477T>C, NM_001098615.1:c.477T>C, XR_944748.2:n.554T>C, XR_944748.1:n.581T>C, XM_047429625.1:c.504T>C, XM_047429626.1:c.513T>C, XM_047429627.1:c.513T>C

Select item 146851189720.

rs1468511897 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:43754915 (GRCh38)
12:44148718 (GRCh37)
Canonical SPDI:: NC_000012.12:43754914:T:C
Gene:: PUS7L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.43754915T>C, NC_000012.11:g.44148718T>C, NG_009892.1:g.972T>C, NM_031292.5:c.331A>G, NM_031292.4:c.331A>G, XM_011538790.4:c.358A>G, XM_011538790.3:c.358A>G, XM_011538790.2:c.358A>G, XM_011538790.1:c.358A>G, NM_001098614.3:c.331A>G, NM_001098614.2:c.331A>G, XM_011538791.3:c.367A>G, XM_011538791.2:c.367A>G, XM_011538791.1:c.367A>G, XM_006719623.3:c.367A>G, XM_006719623.2:c.367A>G, XM_006719623.1:c.367A>G, NM_001098615.2:c.331A>G, NM_001098615.1:c.331A>G, XR_944748.2:n.408A>G, XR_944748.1:n.435A>G, XM_047429625.1:c.358A>G, XM_047429626.1:c.367A>G, XM_047429627.1:c.367A>G, NP_112582.3:p.Ile111Val, XP_011537092.1:p.Ile120Val, NP_001092084.1:p.Ile111Val, XP_011537093.1:p.Ile123Val, XP_006719686.1:p.Ile123Val, NP_001092085.1:p.Ile111Val, XP_047285581.1:p.Ile120Val, XP_047285582.1:p.Ile123Val, XP_047285583.1:p.Ile123Val

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