SNP Links for Protein (Select 22547134) - SNP

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Links from Protein

Items: 1 to 20 of 458

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Select item 14900284341.

rs1490028434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:54210128 (GRCh38)
1:54675801 (GRCh37)
Canonical SPDI:: NC_000001.11:54210127:A:C
Gene:: MRPL37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54210128A>C, NC_000001.10:g.54675801A>C, NM_016491.4:c.829A>C, NM_016491.3:c.829A>C, NM_001330602.1:c.829A>C, NP_057575.2:p.Thr277Pro, NP_001317531.1:p.Thr277Pro

Select item 14881137932.

rs1488113793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:54205306 (GRCh38)
1:54670979 (GRCh37)
Canonical SPDI:: NC_000001.11:54205305:T:C
Gene:: MRPL37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.54205306T>C, NC_000001.10:g.54670979T>C, NM_016491.4:c.542T>C, NM_016491.3:c.542T>C, NM_001330602.1:c.542T>C, NP_057575.2:p.Val181Ala, NP_001317531.1:p.Val181Ala

Select item 14879722533.

rs1487972253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:54200376 (GRCh38)
1:54666049 (GRCh37)
Canonical SPDI:: NC_000001.11:54200375:C:G,NC_000001.11:54200375:C:T
Gene:: MRPL37 (Varview), CYB5RL (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.54200376C>G, NC_000001.11:g.54200376C>T, NC_000001.10:g.54666049C>G, NC_000001.10:g.54666049C>T, NM_016491.4:c.133C>G, NM_016491.4:c.133C>T, NM_016491.3:c.133C>G, NM_016491.3:c.133C>T, NM_001330602.1:c.133C>G, NM_001330602.1:c.133C>T, NP_057575.2:p.Pro45Ala, NP_057575.2:p.Pro45Ser, NP_001317531.1:p.Pro45Ala, NP_001317531.1:p.Pro45Ser

Select item 14868812854.

rs1486881285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54216207 (GRCh38)
1:54681880 (GRCh37)
Canonical SPDI:: NC_000001.11:54216206:C:T
Gene:: MRPL37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.54216207C>T, NC_000001.10:g.54681880C>T, NM_016491.4:c.1057C>T, NM_016491.3:c.1057C>T, NM_001330602.1:c.1057C>T, NP_057575.2:p.His353Tyr, NP_001317531.1:p.His353Tyr

Select item 14844898215.

rs1484489821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:54210030 (GRCh38)
1:54675703 (GRCh37)
Canonical SPDI:: NC_000001.11:54210029:A:T
Gene:: MRPL37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.54210030A>T, NC_000001.10:g.54675703A>T, NM_016491.4:c.731A>T, NM_016491.3:c.731A>T, NM_001330602.1:c.731A>T, NP_057575.2:p.Glu244Val, NP_001317531.1:p.Glu244Val

Select item 14817530856.

rs1481753085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:54200310 (GRCh38)
1:54665983 (GRCh37)
Canonical SPDI:: NC_000001.11:54200309:T:C
Gene:: MRPL37 (Varview), CYB5RL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_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_000001.11:g.54200310T>C, NC_000001.10:g.54665983T>C, NM_016491.4:c.67T>C, NM_016491.3:c.67T>C, NM_001330602.1:c.67T>C, NP_057575.2:p.Phe23Leu, NP_001317531.1:p.Phe23Leu

Select item 14809479487.

rs1480947948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:54216337 (GRCh38)
1:54682010 (GRCh37)
Canonical SPDI:: NC_000001.11:54216336:T:C
Gene:: MRPL37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54216337T>C, NC_000001.10:g.54682010T>C, NM_016491.4:c.1187T>C, NM_016491.3:c.1187T>C, NM_001330602.1:c.1187T>C, NP_057575.2:p.Val396Ala, NP_001317531.1:p.Val396Ala

Select item 14804680628.

rs1480468062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:54205317 (GRCh38)
1:54670990 (GRCh37)
Canonical SPDI:: NC_000001.11:54205316:A:G
Gene:: MRPL37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.54205317A>G, NC_000001.10:g.54670990A>G, NM_016491.4:c.553A>G, NM_016491.3:c.553A>G, NM_001330602.1:c.553A>G, NP_057575.2:p.Ile185Val, NP_001317531.1:p.Ile185Val

Select item 14776169359.

rs1477616935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54200312 (GRCh38)
1:54665985 (GRCh37)
Canonical SPDI:: NC_000001.11:54200311:C:T
Gene:: MRPL37 (Varview), CYB5RL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54200312C>T, NC_000001.10:g.54665985C>T, NM_016491.4:c.69C>T, NM_016491.3:c.69C>T, NM_001330602.1:c.69C>T

Select item 147737913310.

rs1477379133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54200501 (GRCh38)
1:54666174 (GRCh37)
Canonical SPDI:: NC_000001.11:54200500:G:A
Gene:: MRPL37 (Varview), CYB5RL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000071/2 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.54200501G>A, NC_000001.10:g.54666174G>A, NM_016491.4:c.258G>A, NM_016491.3:c.258G>A, NM_001330602.1:c.258G>A

Select item 147636467511.

rs1476364675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:54216339 (GRCh38)
1:54682012 (GRCh37)
Canonical SPDI:: NC_000001.11:54216338:G:T
Gene:: MRPL37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.54216339G>T, NC_000001.10:g.54682012G>T, NM_016491.4:c.1189G>T, NM_016491.3:c.1189G>T, NM_001330602.1:c.1189G>T, NP_057575.2:p.Val397Phe, NP_001317531.1:p.Val397Phe

Select item 147474657612.

rs1474746576 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TTT [Show Flanks]
Chromosome:: 1:54218217 (GRCh38)
1:54683890 (GRCh37)
Canonical SPDI:: NC_000001.11:54218216:TTTTT:TTTT,NC_000001.11:54218216:TTTTT:TTTTTTT
Gene:: MRPL37 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,frameshift_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
TT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54218221del, NC_000001.11:g.54218220_54218221dup, NC_000001.10:g.54683894del, NC_000001.10:g.54683893_54683894dup, NM_016491.4:c.1244del, NM_016491.4:c.1243_1244dup, NM_016491.3:c.1244del, NM_016491.3:c.1243_1244dup, NP_057575.2:p.Phe414_Leu415insTer, NP_057575.2:p.Leu415fs

Select item 147243728813.

rs1472437288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:54218237 (GRCh38)
1:54683910 (GRCh37)
Canonical SPDI:: NC_000001.11:54218236:T:C
Gene:: MRPL37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.54218237T>C, NC_000001.10:g.54683910T>C, NM_016491.4:c.1260T>C, NM_016491.3:c.1260T>C

Select item 146786991414.

rs1467869914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:54205394 (GRCh38)
1:54671067 (GRCh37)
Canonical SPDI:: NC_000001.11:54205393:T:C
Gene:: MRPL37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.54205394T>C, NC_000001.10:g.54671067T>C, NM_016491.4:c.630T>C, NM_016491.3:c.630T>C, NM_001330602.1:c.630T>C

Select item 146782793715.

rs1467827937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54212544 (GRCh38)
1:54678217 (GRCh37)
Canonical SPDI:: NC_000001.11:54212543:C:T
Gene:: MRPL37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54212544C>T, NC_000001.10:g.54678217C>T, NM_016491.4:c.876C>T, NM_016491.3:c.876C>T, NM_001330602.1:c.876C>T

Select item 146765536816.

rs1467655368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:54205089 (GRCh38)
1:54670762 (GRCh37)
Canonical SPDI:: NC_000001.11:54205088:G:C
Gene:: MRPL37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.54205089G>C, NC_000001.10:g.54670762G>C, NM_016491.4:c.418G>C, NM_016491.3:c.418G>C, NM_001330602.1:c.418G>C, NP_057575.2:p.Val140Leu, NP_001317531.1:p.Val140Leu

Select item 146751956017.

rs1467519560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:54209986 (GRCh38)
1:54675659 (GRCh37)
Canonical SPDI:: NC_000001.11:54209985:A:G
Gene:: MRPL37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54209986A>G, NC_000001.10:g.54675659A>G, NM_016491.4:c.687A>G, NM_016491.3:c.687A>G, NM_001330602.1:c.687A>G

Select item 146585759918.

rs1465857599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:54200514 (GRCh38)
1:54666187 (GRCh37)
Canonical SPDI:: NC_000001.11:54200513:C:A
Gene:: MRPL37 (Varview), CYB5RL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54200514C>A, NC_000001.10:g.54666187C>A, NM_016491.4:c.271C>A, NM_016491.3:c.271C>A, NM_001330602.1:c.271C>A, NP_057575.2:p.Pro91Thr, NP_001317531.1:p.Pro91Thr

Select item 146439970519.

rs1464399705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54200520 (GRCh38)
1:54666193 (GRCh37)
Canonical SPDI:: NC_000001.11:54200519:C:T
Gene:: MRPL37 (Varview), CYB5RL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.54200520C>T, NC_000001.10:g.54666193C>T, NM_016491.4:c.277C>T, NM_016491.3:c.277C>T, NM_001330602.1:c.277C>T, NP_057575.2:p.Leu93Phe, NP_001317531.1:p.Leu93Phe

Select item 146320167920.

rs1463201679 [Homo sapiens]

Variant type:: DEL
Alleles:: AAGGCGGGCGCTAGCT>- [Show Flanks]
Chromosome:: 1:54200267 (GRCh38)
1:54665940 (GRCh37)
Canonical SPDI:: NC_000001.11:54200266:AAGGCGGGCGCTAGCT:
Gene:: MRPL37 (Varview), CYB5RL (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.54200267_54200282del, NC_000001.10:g.54665940_54665955del, NM_016491.4:c.24_39del, NM_016491.3:c.24_39del, NM_001330602.1:c.24_39del, NP_057575.2:p.Arg9fs, NP_001317531.1:p.Arg9fs

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