Canonical Allele Identifier: CA302741
Gene: COL5A1 HGNC NCBI
COSMIC:
COSM1559848 (not active)
MyVariant.info:
GRCh38 chr9:g.134750808G>A
GRCh37 chr9:g.137642654G>A
Revel Score:
ENST00000371817 (MANE Select) 0.486
gnomAD v2:
9:137642654 G / A
gnomAD v3:
9:134750808 G / A
gnomAD v4:
chr9-134750808-G-A
Joint Max Group AF 0.04589377 (NFE)
Genomes Max Group AF 0.04629354 (NFE)
Exomes Max Group AF 0.04579619 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750808G>A , CM000671.2:g.134750808G>A GRCh38
NC_000009.11:g.137642654G>A , CM000671.1:g.137642654G>A GRCh37
NC_000009.10:g.136782475G>A NCBI36
NG_008030.1:g.114003G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1588G>A ENSP00000360885.4:p.Gly530Ser
ENST00000371817.8:c.1588G>A MANE Select ENSP00000360882.3:p.Gly530Ser
ENST00000371817.7:c.1588G>A ENSP00000360882.3:p.Gly530Ser
ENST00000618395.4:c.1588G>A ENSP00000481360.1:p.Gly530Ser
NM_000093.4:c.1588G>A NP_000084.3:p.Gly530Ser
NM_001278074.1:c.1588G>A NP_001265003.1:p.Gly530Ser
XR_929712.1:n.1990G>A
XR_929713.1:n.1990G>A
XM_017014266.2:c.1588G>A XP_016869755.1:p.Gly530Ser
XR_001746183.1:n.1986G>A
NM_000093.5:c.1588G>A MANE Select NP_000084.3:p.Gly530Ser
Search 100 bp 5'
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