Canonical Allele Identifier: CA375450723

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 587646
• ClinVar RCV Id: RCV000714910
• dbSNP Id: rs1564417691
• gnomAD v4: 9-134731540-G-T
• MyVariant Identifiers: chr9:g.137623386G>T (hg19) ; chr9:g.134731540G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731540G>T , CM000671.2:g.134731540G>T	GRCh38
NC_000009.11:g.137623386G>T , CM000671.1:g.137623386G>T	GRCh37
NC_000009.10:g.136763207G>T	NCBI36
NG_008030.1:g.94735G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1209G>T	ENSP00000360885.4:p.Glu403Asp
ENST00000371817.8:c.1209G>T MANE Select	ENSP00000360882.3:p.Glu403Asp
ENST00000371817.7:c.1209G>T	ENSP00000360882.3:p.Glu403Asp
ENST00000618395.4:c.1209G>T	ENSP00000481360.1:p.Glu403Asp
NM_000093.4:c.1209G>T	NP_000084.3:p.Glu403Asp
NM_001278074.1:c.1209G>T	NP_001265003.1:p.Glu403Asp
XR_929712.1:n.1611G>T
XR_929713.1:n.1611G>T
XM_017014266.2:c.1209G>T	XP_016869755.1:p.Glu403Asp
XR_001746183.1:n.1607G>T
NM_000093.5:c.1209G>T MANE Select	NP_000084.3:p.Glu403Asp