Canonical Allele Identifier: CA5320691

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 449274
• ClinVar RCV Id: RCV000519699 ; RCV002231205 ; RCV002350147 ; RCV002497010
• dbSNP Id: rs746104317
• ExAC: 9:137727019 C / A
• gnomAD v2: 9-137727019-C-A
• gnomAD v3: 9-134835173-C-A
• gnomAD v4: 9-134835173-C-A
• MyVariant Identifiers: chr9:g.137727019C>A (hg19) ; chr9:g.134835173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835173C>A , CM000671.2:g.134835173C>A	GRCh38
NC_000009.11:g.137727019C>A , CM000671.1:g.137727019C>A	GRCh37
NC_000009.10:g.136866840C>A	NCBI36
NG_008030.1:g.198368C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5339C>A	ENSP00000360885.4:p.Pro1780His
ENST00000371817.8:c.5339C>A MANE Select	ENSP00000360882.3:p.Pro1780His
ENST00000371817.7:c.5339C>A	ENSP00000360882.3:p.Pro1780His
ENST00000371820.3:c.597C>A
ENST00000618395.4:c.5339C>A	ENSP00000481360.1:p.Pro1780His
NM_000093.4:c.5339C>A	NP_000084.3:p.Pro1780His
NM_001278074.1:c.5339C>A	NP_001265003.1:p.Pro1780His
NR_103451.2:n.71-14964G>T
NM_000093.5:c.5339C>A MANE Select	NP_000084.3:p.Pro1780His