Canonical Allele Identifier: CA375440406

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2699682
• ClinVar RCV Id: RCV003594872
• MyVariant Identifiers: chr9:g.137582812T>A (hg19) ; chr9:g.134690966T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690966T>A , CM000671.2:g.134690966T>A	GRCh38
NC_000009.11:g.137582812T>A , CM000671.1:g.137582812T>A	GRCh37
NC_000009.10:g.136722633T>A	NCBI36
NG_008030.1:g.54161T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.164T>A	ENSP00000360885.4:p.Ile55Lys
ENST00000371817.8:c.164T>A MANE Select	ENSP00000360882.3:p.Ile55Lys
ENST00000371817.7:c.164T>A	ENSP00000360882.3:p.Ile55Lys
ENST00000464187.1:n.350T>A
ENST00000618395.4:c.164T>A	ENSP00000481360.1:p.Ile55Lys
NM_000093.4:c.164T>A	NP_000084.3:p.Ile55Lys
NM_001278074.1:c.164T>A	NP_001265003.1:p.Ile55Lys
XR_929712.1:n.566T>A
XR_929713.1:n.566T>A
XM_017014266.2:c.164T>A	XP_016869755.1:p.Ile55Lys
XR_001746183.1:n.562T>A
NM_000093.5:c.164T>A MANE Select	NP_000084.3:p.Ile55Lys