Canonical Allele Identifier: CA375440327

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 1345121
• ClinVar RCV Id: RCV002034940
• dbSNP Id: rs2132550843
• MyVariant Identifiers: chr9:g.137582776T>G (hg19) ; chr9:g.134690930T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690930T>G , CM000671.2:g.134690930T>G	GRCh38
NC_000009.11:g.137582776T>G , CM000671.1:g.137582776T>G	GRCh37
NC_000009.10:g.136722597T>G	NCBI36
NG_008030.1:g.54125T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.128T>G	ENSP00000360885.4:p.Leu43Arg
ENST00000371817.8:c.128T>G MANE Select	ENSP00000360882.3:p.Leu43Arg
ENST00000371817.7:c.128T>G	ENSP00000360882.3:p.Leu43Arg
ENST00000464187.1:n.314T>G
ENST00000618395.4:c.128T>G	ENSP00000481360.1:p.Leu43Arg
NM_000093.4:c.128T>G	NP_000084.3:p.Leu43Arg
NM_001278074.1:c.128T>G	NP_001265003.1:p.Leu43Arg
XR_929712.1:n.530T>G
XR_929713.1:n.530T>G
XM_017014266.2:c.128T>G	XP_016869755.1:p.Leu43Arg
XR_001746183.1:n.526T>G
NM_000093.5:c.128T>G MANE Select	NP_000084.3:p.Leu43Arg