Canonical Allele Identifier: CA5318179

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 365704
• ClinVar RCV Id: RCV000305176 ; RCV000458222 ; RCV001718788 ; RCV002314089 ; RCV002230718
• dbSNP Id: rs762625123
• ExAC: 9:137534070 C / T
• gnomAD v2: 9-137534070-C-T
• gnomAD v3: 9-134642224-C-T
• gnomAD v4: 9-134642224-C-T
• MyVariant Identifiers: chr9:g.137534070C>T (hg19) ; chr9:g.134642224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134642224C>T , CM000671.2:g.134642224C>T	GRCh38
NC_000009.11:g.137534070C>T , CM000671.1:g.137534070C>T	GRCh37
NC_000009.10:g.136673891C>T	NCBI36
NG_008030.1:g.5419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.37C>T	ENSP00000360885.4:p.Leu13Phe
ENST00000371817.8:c.37C>T MANE Select	ENSP00000360882.3:p.Leu13Phe
ENST00000371817.7:c.37C>T	ENSP00000360882.3:p.Leu13Phe
ENST00000618395.4:c.37C>T	ENSP00000481360.1:p.Leu13Phe
NM_000093.4:c.37C>T	NP_000084.3:p.Leu13Phe
NM_001278074.1:c.37C>T	NP_001265003.1:p.Leu13Phe
XR_929712.1:n.439C>T
XR_929713.1:n.439C>T
XM_017014266.2:c.37C>T	XP_016869755.1:p.Leu13Phe
XR_001746183.1:n.435C>T
NM_000093.5:c.37C>T MANE Select	NP_000084.3:p.Leu13Phe