Canonical Allele Identifier: CA375458076

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 459699
• ClinVar RCV Id: RCV002231691
• dbSNP Id: rs1554807720
• MyVariant Identifiers: chr9:g.137714847C>A (hg19) ; chr9:g.134823001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134823001C>A , CM000671.2:g.134823001C>A	GRCh38
NC_000009.11:g.137714847C>A , CM000671.1:g.137714847C>A	GRCh37
NC_000009.10:g.136854668C>A	NCBI36
NG_008030.1:g.186196C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4612C>A	ENSP00000360885.4:p.Pro1538Thr
ENST00000371817.8:c.4612C>A MANE Select	ENSP00000360882.3:p.Pro1538Thr
ENST00000371817.7:c.4612C>A	ENSP00000360882.3:p.Pro1538Thr
ENST00000460264.5:n.80C>A
ENST00000618395.4:c.4612C>A	ENSP00000481360.1:p.Pro1538Thr
NM_000093.4:c.4612C>A	NP_000084.3:p.Pro1538Thr
NM_001278074.1:c.4612C>A	NP_001265003.1:p.Pro1538Thr
NR_103451.2:n.71-2792G>T
XR_929712.1:n.5014C>A
XR_929713.1:n.5014C>A
XM_017014266.2:c.4612C>A	XP_016869755.1:p.Pro1538Thr
XR_001746183.1:n.5010C>A
NM_000093.5:c.4612C>A MANE Select	NP_000084.3:p.Pro1538Thr