Canonical Allele Identifier: CA375450835

Gene: COL5A1

Linked Data

• dbSNP Id: rs1164913491
• gnomAD v4: 9-134805174-T-G
• MyVariant Identifiers: chr9:g.137697020T>G (hg19) ; chr9:g.134805174T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134805174T>G , CM000671.2:g.134805174T>G	GRCh38
NC_000009.11:g.137697020T>G , CM000671.1:g.137697020T>G	GRCh37
NC_000009.10:g.136836841T>G	NCBI36
NG_008030.1:g.168369T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.3218T>G	ENSP00000360885.4:p.Leu1073Arg
ENST00000371817.8:c.3218T>G MANE Select	ENSP00000360882.3:p.Leu1073Arg
ENST00000371817.7:c.3218T>G	ENSP00000360882.3:p.Leu1073Arg
ENST00000618395.4:c.3218T>G	ENSP00000481360.1:p.Leu1073Arg
NM_000093.4:c.3218T>G	NP_000084.3:p.Leu1073Arg
NM_001278074.1:c.3218T>G	NP_001265003.1:p.Leu1073Arg
XR_929712.1:n.3620T>G
XR_929713.1:n.3620T>G
XM_017014266.2:c.3218T>G	XP_016869755.1:p.Leu1073Arg
XR_001746183.1:n.3616T>G
NM_000093.5:c.3218T>G MANE Select	NP_000084.3:p.Leu1073Arg