Canonical Allele Identifier: CA467653279

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 1095539
• ClinVar RCV Id: RCV002243081
• dbSNP Id: rs1835749798
• MyVariant Identifiers: chr9:g.137642644T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750798T>C , CM000671.2:g.134750798T>C	GRCh38
NC_000009.11:g.137642644T>C , CM000671.1:g.137642644T>C	GRCh37
NC_000009.10:g.136782465T>C	NCBI36
NG_008030.1:g.113993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1578T>C	ENSP00000360885.4:p.Phe526=
ENST00000371817.8:c.1578T>C MANE Select	ENSP00000360882.3:p.Phe526=
ENST00000371817.7:c.1578T>C	ENSP00000360882.3:p.Phe526=
ENST00000618395.4:c.1578T>C	ENSP00000481360.1:p.Phe526=
NM_000093.4:c.1578T>C	NP_000084.3:p.Phe526=
NM_001278074.1:c.1578T>C	NP_001265003.1:p.Phe526=
XR_929712.1:n.1980T>C
XR_929713.1:n.1980T>C
XM_017014266.2:c.1578T>C	XP_016869755.1:p.Phe526=
XR_001746183.1:n.1976T>C
NM_000093.5:c.1578T>C MANE Select	NP_000084.3:p.Phe526=