Canonical Allele Identifier: CA375450880

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 578142
• ClinVar RCV Id: RCV002232909
• dbSNP Id: rs775974461
• MyVariant Identifiers: chr9:g.137623416C>G (hg19) ; chr9:g.134731570C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731570C>G , CM000671.2:g.134731570C>G	GRCh38
NC_000009.11:g.137623416C>G , CM000671.1:g.137623416C>G	GRCh37
NC_000009.10:g.136763237C>G	NCBI36
NG_008030.1:g.94765C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.1239C>G	ENSP00000360885.4:p.Asp413Glu
ENST00000371817.8:c.1239C>G MANE Select	ENSP00000360882.3:p.Asp413Glu
ENST00000371817.7:c.1239C>G	ENSP00000360882.3:p.Asp413Glu
ENST00000618395.4:c.1239C>G	ENSP00000481360.1:p.Asp413Glu
NM_000093.4:c.1239C>G	NP_000084.3:p.Asp413Glu
NM_001278074.1:c.1239C>G	NP_001265003.1:p.Asp413Glu
XR_929712.1:n.1641C>G
XR_929713.1:n.1641C>G
XM_017014266.2:c.1239C>G	XP_016869755.1:p.Asp413Glu
XR_001746183.1:n.1637C>G
NM_000093.5:c.1239C>G MANE Select	NP_000084.3:p.Asp413Glu