SNP Links for Protein (Select 688955083) - SNP

Links from Protein

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Select item 14894104431.

rs1489410443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152989947 (GRCh38)
6:153311082 (GRCh37)
Canonical SPDI:: NC_000006.12:152989946:T:C
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152989947T>C, NC_000006.11:g.153311082T>C, NM_019041.7:c.1091A>G, NM_019041.6:c.1091A>G, NM_019041.5:c.1091A>G, NM_001114184.3:c.*138A>G, NM_001114184.2:c.*138A>G, NM_001114184.1:c.*138A>G, NM_001301047.3:c.*138A>G, NM_001301047.2:c.*138A>G, NM_001301047.1:c.*138A>G, NM_001301871.2:c.665A>G, NM_001301871.1:c.665A>G, NM_001301870.2:c.983A>G, NM_001301870.1:c.983A>G, NR_126056.2:n.953A>G, NR_126056.1:n.1059A>G, XM_047418906.1:c.665A>G, XM_047418907.1:c.665A>G, NP_061914.3:p.Lys364Arg, NP_001288800.1:p.Lys222Arg, NP_001288799.1:p.Lys328Arg, XP_047274862.1:p.Lys222Arg, XP_047274863.1:p.Lys222Arg

Select item 14891532852.

rs1489153285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:153002638 (GRCh38)
6:153323773 (GRCh37)
Canonical SPDI:: NC_000006.12:153002637:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.153002638G>A, NC_000006.11:g.153323773G>A, NM_019041.7:c.48C>T, NM_019041.6:c.48C>T, NM_019041.5:c.48C>T, NM_001114184.3:c.48C>T, NM_001114184.2:c.48C>T, NM_001114184.1:c.48C>T, NM_001301047.3:c.48C>T, NM_001301047.2:c.48C>T, NM_001301047.1:c.48C>T, NM_001301871.2:c.-354C>T, NM_001301871.1:c.-354C>T, NM_001301870.2:c.48C>T, NM_001301870.1:c.48C>T, NR_126056.2:n.72C>T, NR_126056.1:n.178C>T, NM_001301872.2:c.48C>T, NM_001301872.1:c.48C>T, XM_047418905.1:c.48C>T

Select item 14874829083.

rs1487482908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:152994614 (GRCh38)
6:153315749 (GRCh37)
Canonical SPDI:: NC_000006.12:152994613:C:G
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.152994614C>G, NC_000006.11:g.153315749C>G, NM_019041.7:c.586G>C, NM_019041.6:c.586G>C, NM_019041.5:c.586G>C, NM_001114184.3:c.586G>C, NM_001114184.2:c.586G>C, NM_001114184.1:c.586G>C, NM_001301047.3:c.478G>C, NM_001301047.2:c.478G>C, NM_001301047.1:c.478G>C, NM_001301871.2:c.160G>C, NM_001301871.1:c.160G>C, NM_001301870.2:c.478G>C, NM_001301870.1:c.478G>C, NR_126056.2:n.585G>C, NR_126056.1:n.691G>C, XM_047418906.1:c.160G>C, XM_047418907.1:c.160G>C, XM_047418905.1:c.586G>C, NP_061914.3:p.Glu196Gln, NP_001107656.1:p.Glu196Gln, NP_001287976.1:p.Glu160Gln, NP_001288800.1:p.Glu54Gln, NP_001288799.1:p.Glu160Gln, XP_047274862.1:p.Glu54Gln, XP_047274863.1:p.Glu54Gln, XP_047274861.1:p.Glu196Gln

Select item 14871954464.

rs1487195446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:152994535 (GRCh38)
6:153315670 (GRCh37)
Canonical SPDI:: NC_000006.12:152994534:G:C
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.152994535G>C, NC_000006.11:g.153315670G>C, NM_019041.7:c.665C>G, NM_019041.6:c.665C>G, NM_019041.5:c.665C>G, NM_001114184.3:c.665C>G, NM_001114184.2:c.665C>G, NM_001114184.1:c.665C>G, NM_001301047.3:c.557C>G, NM_001301047.2:c.557C>G, NM_001301047.1:c.557C>G, NM_001301871.2:c.239C>G, NM_001301871.1:c.239C>G, NM_001301870.2:c.557C>G, NM_001301870.1:c.557C>G, NR_126056.2:n.664C>G, NR_126056.1:n.770C>G, XM_047418906.1:c.239C>G, XM_047418907.1:c.239C>G, XM_047418905.1:c.665C>G, NP_061914.3:p.Ala222Gly, NP_001107656.1:p.Ala222Gly, NP_001287976.1:p.Ala186Gly, NP_001288800.1:p.Ala80Gly, NP_001288799.1:p.Ala186Gly, XP_047274862.1:p.Ala80Gly, XP_047274863.1:p.Ala80Gly, XP_047274861.1:p.Ala222Gly

Select item 14830448475.

rs1483044847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:153002428 (GRCh38)
6:153323563 (GRCh37)
Canonical SPDI:: NC_000006.12:153002427:G:T
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.153002428G>T, NC_000006.11:g.153323563G>T, NM_019041.7:c.258C>A, NM_019041.6:c.258C>A, NM_019041.5:c.258C>A, NM_001114184.3:c.258C>A, NM_001114184.2:c.258C>A, NM_001114184.1:c.258C>A, NM_001301047.3:c.258C>A, NM_001301047.2:c.258C>A, NM_001301047.1:c.258C>A, NM_001301871.2:c.-144C>A, NM_001301871.1:c.-144C>A, NM_001301870.2:c.258C>A, NM_001301870.1:c.258C>A, NR_126056.2:n.282C>A, NR_126056.1:n.388C>A, NM_001301872.2:c.258C>A, NM_001301872.1:c.258C>A, XM_047418905.1:c.258C>A, NP_061914.3:p.His86Gln, NP_001107656.1:p.His86Gln, NP_001287976.1:p.His86Gln, NP_001288799.1:p.His86Gln, NP_001288801.1:p.His86Gln, XP_047274861.1:p.His86Gln

Select item 14785460136.

rs1478546013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:152990012 (GRCh38)
6:153311147 (GRCh37)
Canonical SPDI:: NC_000006.12:152990011:C:T
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.152990012C>T, NC_000006.11:g.153311147C>T, NM_019041.7:c.1026G>A, NM_019041.6:c.1026G>A, NM_019041.5:c.1026G>A, NM_001114184.3:c.*73G>A, NM_001114184.2:c.*73G>A, NM_001114184.1:c.*73G>A, NM_001301047.3:c.*73G>A, NM_001301047.2:c.*73G>A, NM_001301047.1:c.*73G>A, NM_001301871.2:c.600G>A, NM_001301871.1:c.600G>A, NM_001301870.2:c.918G>A, NM_001301870.1:c.918G>A, NR_126056.2:n.888G>A, NR_126056.1:n.994G>A, XM_047418906.1:c.600G>A, XM_047418907.1:c.600G>A

Select item 14769359657.

rs1476935965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:153002520 (GRCh38)
6:153323655 (GRCh37)
Canonical SPDI:: NC_000006.12:153002519:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.153002520G>A, NC_000006.11:g.153323655G>A, NM_019041.7:c.166C>T, NM_019041.6:c.166C>T, NM_019041.5:c.166C>T, NM_001114184.3:c.166C>T, NM_001114184.2:c.166C>T, NM_001114184.1:c.166C>T, NM_001301047.3:c.166C>T, NM_001301047.2:c.166C>T, NM_001301047.1:c.166C>T, NM_001301871.2:c.-236C>T, NM_001301871.1:c.-236C>T, NM_001301870.2:c.166C>T, NM_001301870.1:c.166C>T, NR_126056.2:n.190C>T, NR_126056.1:n.296C>T, NM_001301872.2:c.166C>T, NM_001301872.1:c.166C>T, XM_047418905.1:c.166C>T, NP_061914.3:p.His56Tyr, NP_001107656.1:p.His56Tyr, NP_001287976.1:p.His56Tyr, NP_001288799.1:p.His56Tyr, NP_001288801.1:p.His56Tyr, XP_047274861.1:p.His56Tyr

Select item 14764006198.

rs1476400619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:152990045 (GRCh38)
6:153311180 (GRCh37)
Canonical SPDI:: NC_000006.12:152990044:C:T
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152990045C>T, NC_000006.11:g.153311180C>T, NM_019041.7:c.993G>A, NM_019041.6:c.993G>A, NM_019041.5:c.993G>A, NM_001114184.3:c.*40G>A, NM_001114184.2:c.*40G>A, NM_001114184.1:c.*40G>A, NM_001301047.3:c.*40G>A, NM_001301047.2:c.*40G>A, NM_001301047.1:c.*40G>A, NM_001301871.2:c.567G>A, NM_001301871.1:c.567G>A, NM_001301870.2:c.885G>A, NM_001301870.1:c.885G>A, NR_126056.2:n.855G>A, NR_126056.1:n.961G>A, XM_047418906.1:c.567G>A, XM_047418907.1:c.567G>A

Select item 14691373389.

rs1469137338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152991186 (GRCh38)
6:153312321 (GRCh37)
Canonical SPDI:: NC_000006.12:152991185:T:C
Gene:: MTRF1L (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.152991186T>C, NC_000006.11:g.153312321T>C, NM_019041.7:c.941A>G, NM_019041.6:c.941A>G, NM_019041.5:c.941A>G, NM_001301871.2:c.515A>G, NM_001301871.1:c.515A>G, NM_001301870.2:c.833A>G, NM_001301870.1:c.833A>G, XM_047418906.1:c.515A>G, XM_047418907.1:c.515A>G, NP_061914.3:p.Gln314Arg, NP_001288800.1:p.Gln172Arg, NP_001288799.1:p.Gln278Arg, XP_047274862.1:p.Gln172Arg, XP_047274863.1:p.Gln172Arg

Select item 146907263910.

rs1469072639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152998563 (GRCh38)
6:153319698 (GRCh37)
Canonical SPDI:: NC_000006.12:152998562:T:C
Gene:: MTRF1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.152998563T>C, NC_000006.11:g.153319698T>C, NM_019041.7:c.326A>G, NM_019041.6:c.326A>G, NM_019041.5:c.326A>G, NM_001114184.3:c.326A>G, NM_001114184.2:c.326A>G, NM_001114184.1:c.326A>G, NM_001301047.3:c.326A>G, NM_001301047.2:c.326A>G, NM_001301047.1:c.326A>G, NM_001301871.2:c.-76A>G, NM_001301871.1:c.-76A>G, NM_001301870.2:c.326A>G, NM_001301870.1:c.326A>G, NR_126056.2:n.350A>G, NR_126056.1:n.456A>G, NM_001301872.2:c.326A>G, NM_001301872.1:c.326A>G, XM_047418907.1:c.-76A>G, XM_047418905.1:c.326A>G, NP_061914.3:p.Gln109Arg, NP_001107656.1:p.Gln109Arg, NP_001287976.1:p.Gln109Arg, NP_001288799.1:p.Gln109Arg, NP_001288801.1:p.Gln109Arg, XP_047274861.1:p.Gln109Arg

Select item 146517167311.

rs1465171673 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCGGAGCTCAGGGGCCGGCGGGCT>- [Show Flanks]
Chromosome:: 6:153002599 (GRCh38)
6:153323734 (GRCh37)
Canonical SPDI:: NC_000006.12:153002589:CGGCGGGCTACCGGAGCTCAGGGGCCGGCGGGCT:CGGCGGGCT
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGCGGGCT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.153002599_153002623del, NC_000006.11:g.153323734_153323758del, NM_019041.7:c.72_96del, NM_019041.6:c.72_96del, NM_019041.5:c.72_96del, NM_001114184.3:c.72_96del, NM_001114184.2:c.72_96del, NM_001114184.1:c.72_96del, NM_001301047.3:c.72_96del, NM_001301047.2:c.72_96del, NM_001301047.1:c.72_96del, NM_001301871.2:c.-330_-306del, NM_001301871.1:c.-330_-306del, NM_001301870.2:c.72_96del, NM_001301870.1:c.72_96del, NR_126056.2:n.96_120del, NR_126056.1:n.202_226del, NM_001301872.2:c.72_96del, NM_001301872.1:c.72_96del, XM_047418905.1:c.72_96del, NP_061914.3:p.Pro25fs, NP_001107656.1:p.Pro25fs, NP_001287976.1:p.Pro25fs, NP_001288799.1:p.Pro25fs, NP_001288801.1:p.Pro25fs, XP_047274861.1:p.Pro25fs

Select item 146455711912.

rs1464557119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:152998584 (GRCh38)
6:153319719 (GRCh37)
Canonical SPDI:: NC_000006.12:152998583:A:T
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.152998584A>T, NC_000006.11:g.153319719A>T, NM_019041.7:c.305T>A, NM_019041.6:c.305T>A, NM_019041.5:c.305T>A, NM_001114184.3:c.305T>A, NM_001114184.2:c.305T>A, NM_001114184.1:c.305T>A, NM_001301047.3:c.305T>A, NM_001301047.2:c.305T>A, NM_001301047.1:c.305T>A, NM_001301871.2:c.-97T>A, NM_001301871.1:c.-97T>A, NM_001301870.2:c.305T>A, NM_001301870.1:c.305T>A, NR_126056.2:n.329T>A, NR_126056.1:n.435T>A, NM_001301872.2:c.305T>A, NM_001301872.1:c.305T>A, XM_047418907.1:c.-97T>A, XM_047418905.1:c.305T>A, NP_061914.3:p.Leu102Ter, NP_001107656.1:p.Leu102Ter, NP_001287976.1:p.Leu102Ter, NP_001288799.1:p.Leu102Ter, NP_001288801.1:p.Leu102Ter, XP_047274861.1:p.Leu102Ter

Select item 146382160513.

rs1463821605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:152989999 (GRCh38)
6:153311134 (GRCh37)
Canonical SPDI:: NC_000006.12:152989998:C:A,NC_000006.12:152989998:C:G
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.00007/1 (TOMMO)
HGVS:: NC_000006.12:g.152989999C>A, NC_000006.12:g.152989999C>G, NC_000006.11:g.153311134C>A, NC_000006.11:g.153311134C>G, NM_019041.7:c.1039G>T, NM_019041.7:c.1039G>C, NM_019041.6:c.1039G>T, NM_019041.6:c.1039G>C, NM_019041.5:c.1039G>T, NM_019041.5:c.1039G>C, NM_001114184.3:c.*86G>T, NM_001114184.3:c.*86G>C, NM_001114184.2:c.*86G>T, NM_001114184.2:c.*86G>C, NM_001114184.1:c.*86G>T, NM_001114184.1:c.*86G>C, NM_001301047.3:c.*86G>T, NM_001301047.3:c.*86G>C, NM_001301047.2:c.*86G>T, NM_001301047.2:c.*86G>C, NM_001301047.1:c.*86G>T, NM_001301047.1:c.*86G>C, NM_001301871.2:c.613G>T, NM_001301871.2:c.613G>C, NM_001301871.1:c.613G>T, NM_001301871.1:c.613G>C, NM_001301870.2:c.931G>T, NM_001301870.2:c.931G>C, NM_001301870.1:c.931G>T, NM_001301870.1:c.931G>C, NR_126056.2:n.901G>T, NR_126056.2:n.901G>C, NR_126056.1:n.1007G>T, NR_126056.1:n.1007G>C, XM_047418906.1:c.613G>T, XM_047418906.1:c.613G>C, XM_047418907.1:c.613G>T, XM_047418907.1:c.613G>C, NP_061914.3:p.Glu347Ter, NP_061914.3:p.Glu347Gln, NP_001288800.1:p.Glu205Ter, NP_001288800.1:p.Glu205Gln, NP_001288799.1:p.Glu311Ter, NP_001288799.1:p.Glu311Gln, XP_047274862.1:p.Glu205Ter, XP_047274862.1:p.Glu205Gln, XP_047274863.1:p.Glu205Ter, XP_047274863.1:p.Glu205Gln

Select item 146359367114.

rs1463593671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:153002463 (GRCh38)
6:153323598 (GRCh37)
Canonical SPDI:: NC_000006.12:153002462:C:G,NC_000006.12:153002462:C:T
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.153002463C>G, NC_000006.12:g.153002463C>T, NC_000006.11:g.153323598C>G, NC_000006.11:g.153323598C>T, NM_019041.7:c.223G>C, NM_019041.7:c.223G>A, NM_019041.6:c.223G>C, NM_019041.6:c.223G>A, NM_019041.5:c.223G>C, NM_019041.5:c.223G>A, NM_001114184.3:c.223G>C, NM_001114184.3:c.223G>A, NM_001114184.2:c.223G>C, NM_001114184.2:c.223G>A, NM_001114184.1:c.223G>C, NM_001114184.1:c.223G>A, NM_001301047.3:c.223G>C, NM_001301047.3:c.223G>A, NM_001301047.2:c.223G>C, NM_001301047.2:c.223G>A, NM_001301047.1:c.223G>C, NM_001301047.1:c.223G>A, NM_001301871.2:c.-179G>C, NM_001301871.2:c.-179G>A, NM_001301871.1:c.-179G>C, NM_001301871.1:c.-179G>A, NM_001301870.2:c.223G>C, NM_001301870.2:c.223G>A, NM_001301870.1:c.223G>C, NM_001301870.1:c.223G>A, NR_126056.2:n.247G>C, NR_126056.2:n.247G>A, NR_126056.1:n.353G>C, NR_126056.1:n.353G>A, NM_001301872.2:c.223G>C, NM_001301872.2:c.223G>A, NM_001301872.1:c.223G>C, NM_001301872.1:c.223G>A, XM_047418905.1:c.223G>C, XM_047418905.1:c.223G>A, NP_061914.3:p.Glu75Gln, NP_061914.3:p.Glu75Lys, NP_001107656.1:p.Glu75Gln, NP_001107656.1:p.Glu75Lys, NP_001287976.1:p.Glu75Gln, NP_001287976.1:p.Glu75Lys, NP_001288799.1:p.Glu75Gln, NP_001288799.1:p.Glu75Lys, NP_001288801.1:p.Glu75Gln, NP_001288801.1:p.Glu75Lys, XP_047274861.1:p.Glu75Gln, XP_047274861.1:p.Glu75Lys

Select item 146234350515.

rs1462343505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:153002577 (GRCh38)
6:153323712 (GRCh37)
Canonical SPDI:: NC_000006.12:153002576:A:G
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.153002577A>G, NC_000006.11:g.153323712A>G, NM_019041.7:c.109T>C, NM_019041.6:c.109T>C, NM_019041.5:c.109T>C, NM_001114184.3:c.109T>C, NM_001114184.2:c.109T>C, NM_001114184.1:c.109T>C, NM_001301047.3:c.109T>C, NM_001301047.2:c.109T>C, NM_001301047.1:c.109T>C, NM_001301871.2:c.-293T>C, NM_001301871.1:c.-293T>C, NM_001301870.2:c.109T>C, NM_001301870.1:c.109T>C, NR_126056.2:n.133T>C, NR_126056.1:n.239T>C, NM_001301872.2:c.109T>C, NM_001301872.1:c.109T>C, XM_047418905.1:c.109T>C, NP_061914.3:p.Phe37Leu, NP_001107656.1:p.Phe37Leu, NP_001287976.1:p.Phe37Leu, NP_001288799.1:p.Phe37Leu, NP_001288801.1:p.Phe37Leu, XP_047274861.1:p.Phe37Leu

Select item 146157700916.

rs1461577009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:153002594 (GRCh38)
6:153323729 (GRCh37)
Canonical SPDI:: NC_000006.12:153002593:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000006.12:g.153002594G>A, NC_000006.11:g.153323729G>A, NM_019041.7:c.92C>T, NM_019041.6:c.92C>T, NM_019041.5:c.92C>T, NM_001114184.3:c.92C>T, NM_001114184.2:c.92C>T, NM_001114184.1:c.92C>T, NM_001301047.3:c.92C>T, NM_001301047.2:c.92C>T, NM_001301047.1:c.92C>T, NM_001301871.2:c.-310C>T, NM_001301871.1:c.-310C>T, NM_001301870.2:c.92C>T, NM_001301870.1:c.92C>T, NR_126056.2:n.116C>T, NR_126056.1:n.222C>T, NM_001301872.2:c.92C>T, NM_001301872.1:c.92C>T, XM_047418905.1:c.92C>T, NP_061914.3:p.Pro31Leu, NP_001107656.1:p.Pro31Leu, NP_001287976.1:p.Pro31Leu, NP_001288799.1:p.Pro31Leu, NP_001288801.1:p.Pro31Leu, XP_047274861.1:p.Pro31Leu

Select item 145782848217.

rs1457828482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:153002460 (GRCh38)
6:153323595 (GRCh37)
Canonical SPDI:: NC_000006.12:153002459:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.153002460G>A, NC_000006.11:g.153323595G>A, NM_019041.7:c.226C>T, NM_019041.6:c.226C>T, NM_019041.5:c.226C>T, NM_001114184.3:c.226C>T, NM_001114184.2:c.226C>T, NM_001114184.1:c.226C>T, NM_001301047.3:c.226C>T, NM_001301047.2:c.226C>T, NM_001301047.1:c.226C>T, NM_001301871.2:c.-176C>T, NM_001301871.1:c.-176C>T, NM_001301870.2:c.226C>T, NM_001301870.1:c.226C>T, NR_126056.2:n.250C>T, NR_126056.1:n.356C>T, NM_001301872.2:c.226C>T, NM_001301872.1:c.226C>T, XM_047418905.1:c.226C>T, NP_061914.3:p.Arg76Trp, NP_001107656.1:p.Arg76Trp, NP_001287976.1:p.Arg76Trp, NP_001288799.1:p.Arg76Trp, NP_001288801.1:p.Arg76Trp, XP_047274861.1:p.Arg76Trp

Select item 145726749618.

rs1457267496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:152990054 (GRCh38)
6:153311189 (GRCh37)
Canonical SPDI:: NC_000006.12:152990053:A:G
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152990054A>G, NC_000006.11:g.153311189A>G, NM_019041.7:c.984T>C, NM_019041.6:c.984T>C, NM_019041.5:c.984T>C, NM_001114184.3:c.*31T>C, NM_001114184.2:c.*31T>C, NM_001114184.1:c.*31T>C, NM_001301047.3:c.*31T>C, NM_001301047.2:c.*31T>C, NM_001301047.1:c.*31T>C, NM_001301871.2:c.558T>C, NM_001301871.1:c.558T>C, NM_001301870.2:c.876T>C, NM_001301870.1:c.876T>C, NR_126056.2:n.846T>C, NR_126056.1:n.952T>C, XM_047418906.1:c.558T>C, XM_047418907.1:c.558T>C

Select item 145260784519.

rs1452607845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:152989937 (GRCh38)
6:153311072 (GRCh37)
Canonical SPDI:: NC_000006.12:152989936:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.152989937G>A, NC_000006.11:g.153311072G>A, NM_019041.7:c.1101C>T, NM_019041.6:c.1101C>T, NM_019041.5:c.1101C>T, NM_001114184.3:c.*148C>T, NM_001114184.2:c.*148C>T, NM_001114184.1:c.*148C>T, NM_001301047.3:c.*148C>T, NM_001301047.2:c.*148C>T, NM_001301047.1:c.*148C>T, NM_001301871.2:c.675C>T, NM_001301871.1:c.675C>T, NM_001301870.2:c.993C>T, NM_001301870.1:c.993C>T, NR_126056.2:n.963C>T, NR_126056.1:n.1069C>T, XM_047418906.1:c.675C>T, XM_047418907.1:c.675C>T

Select item 145151460920.

rs1451514609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152998607 (GRCh38)
6:153319742 (GRCh37)
Canonical SPDI:: NC_000006.12:152998606:T:C
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.152998607T>C, NC_000006.11:g.153319742T>C, NM_019041.7:c.282A>G, NM_019041.6:c.282A>G, NM_019041.5:c.282A>G, NM_001114184.3:c.282A>G, NM_001114184.2:c.282A>G, NM_001114184.1:c.282A>G, NM_001301047.3:c.282A>G, NM_001301047.2:c.282A>G, NM_001301047.1:c.282A>G, NM_001301871.2:c.-120A>G, NM_001301871.1:c.-120A>G, NM_001301870.2:c.282A>G, NM_001301870.1:c.282A>G, NR_126056.2:n.306A>G, NR_126056.1:n.412A>G, NM_001301872.2:c.282A>G, NM_001301872.1:c.282A>G, XM_047418907.1:c.-120A>G, XM_047418905.1:c.282A>G

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