Canonical Allele Identifier: CA302741

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 38863
• ClinVar RCV Id: RCV000032106 ; RCV000174444 ; RCV000349789 ; RCV000587214 ; RCV000659443 ; RCV001507191 ; RCV002269821 ; RCV002277113 ; RCV002313725 ; RCV002490441
• dbSNP Id: rs61735045
• ExAC: 9:137642654 G / A
• gnomAD v2: 9-137642654-G-A
• gnomAD v3: 9-134750808-G-A
• gnomAD v4: 9-134750808-G-A
• MyVariant Identifiers: chr9:g.137642654G>A (hg19) ; chr9:g.134750808G>A (hg38)
• PubMed: PMID:10602121 ; PMID:10946364 ; PMID:11992482 ; PMID:15580559 ; PMID:19370768 ; PMID:20301422 ; PMID:20635400 ; PMID:20979576 ; PMID:22696272

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