Canonical Allele Identifier: CA512718589

Gene: COL6A1

Linked Data

• gnomAD v4: 21-46001272-C-A
• MyVariant Identifiers: chr21:g.47421186C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001272C>A , CM000683.2:g.46001272C>A	GRCh38
NC_000021.8:g.47421186C>A , CM000683.1:g.47421186C>A	GRCh37
NC_000021.7:g.46245614C>A	NCBI36
NG_008674.1:g.24524C>A , LRG_475:g.24524C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.241C>A
ENST00000361866.8:c.1842C>A MANE Select	ENSP00000355180.3:p.Ile614=
ENST00000361866.7:c.1842C>A	ENSP00000355180.3:p.Ile614=
ENST00000463060.5:n.241C>A
ENST00000498614.5:n.76C>A
ENST00000612273.1:c.1836C>A	ENSP00000483630.1:p.Ile612=
NM_001848.2:c.1842C>A , LRG_475t1:c.1842C>A	NP_001839.2:p.Ile614=
NM_001848.3:c.1842C>A MANE Select	NP_001839.2:p.Ile614=