Canonical Allele Identifier: CA5318684

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 706261
• ClinVar RCV Id: RCV001585849 ; RCV002235937
• dbSNP Id: rs775974461
• ExAC: 9:137623416 C / T
• gnomAD v2: 9-137623416-C-T
• gnomAD v3: 9-134731570-C-T
• gnomAD v4: 9-134731570-C-T
• MyVariant Identifiers: chr9:g.137623416C>T (hg19) ; chr9:g.134731570C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.1239C>T	ENSP00000360885.4:p.Asp413=
ENST00000371817.8:c.1239C>T MANE Select	ENSP00000360882.3:p.Asp413=
ENST00000371817.7:c.1239C>T	ENSP00000360882.3:p.Asp413=
ENST00000618395.4:c.1239C>T	ENSP00000481360.1:p.Asp413=
NM_000093.4:c.1239C>T	NP_000084.3:p.Asp413=
NM_001278074.1:c.1239C>T	NP_001265003.1:p.Asp413=
XR_929712.1:n.1641C>T
XR_929713.1:n.1641C>T
XM_017014266.2:c.1239C>T	XP_016869755.1:p.Asp413=
XR_001746183.1:n.1637C>T
NM_000093.5:c.1239C>T MANE Select	NP_000084.3:p.Asp413=