Canonical Allele Identifier: CA375461693

Gene: COL5A1

Linked Data

• dbSNP Id: rs1258210858
• gnomAD v4: 9-134842158-C-T
• MyVariant Identifiers: chr9:g.137734004C>T (hg19) ; chr9:g.134842158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842158C>T , CM000671.2:g.134842158C>T	GRCh38
NC_000009.11:g.137734004C>T , CM000671.1:g.137734004C>T	GRCh37
NC_000009.10:g.136873825C>T	NCBI36
NG_008030.1:g.205353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5372C>T	ENSP00000360885.4:p.Thr1791Ile
ENST00000371817.8:c.5372C>T MANE Select	ENSP00000360882.3:p.Thr1791Ile
ENST00000371817.7:c.5372C>T	ENSP00000360882.3:p.Thr1791Ile
ENST00000618395.4:c.5372C>T	ENSP00000481360.1:p.Thr1791Ile
NM_000093.4:c.5372C>T	NP_000084.3:p.Thr1791Ile
NM_001278074.1:c.5372C>T	NP_001265003.1:p.Thr1791Ile
NR_103451.2:n.71-21949G>A
NM_000093.5:c.5372C>T MANE Select	NP_000084.3:p.Thr1791Ile