Canonical Allele Identifier: CA375444153

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2735369
• ClinVar RCV Id: RCV003593380
• MyVariant Identifiers: chr9:g.137642720C>T (hg19) ; chr9:g.134750874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750874C>T , CM000671.2:g.134750874C>T	GRCh38
NC_000009.11:g.137642720C>T , CM000671.1:g.137642720C>T	GRCh37
NC_000009.10:g.136782541C>T	NCBI36
NG_008030.1:g.114069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1654C>T	ENSP00000360885.4:p.Gln552Ter
ENST00000371817.8:c.1654C>T MANE Select	ENSP00000360882.3:p.Gln552Ter
ENST00000371817.7:c.1654C>T	ENSP00000360882.3:p.Gln552Ter
ENST00000618395.4:c.1654C>T	ENSP00000481360.1:p.Gln552Ter
NM_000093.4:c.1654C>T	NP_000084.3:p.Gln552Ter
NM_001278074.1:c.1654C>T	NP_001265003.1:p.Gln552Ter
XR_929712.1:n.2056C>T
XR_929713.1:n.2056C>T
XM_017014266.2:c.1654C>T	XP_016869755.1:p.Gln552Ter
XR_001746183.1:n.2052C>T
NM_000093.5:c.1654C>T MANE Select	NP_000084.3:p.Gln552Ter