Canonical Allele Identifier: CA410533315

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47421214G>A (hg19) ; chr21:g.46001300G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001300G>A , CM000683.2:g.46001300G>A	GRCh38
NC_000021.8:g.47421214G>A , CM000683.1:g.47421214G>A	GRCh37
NC_000021.7:g.46245642G>A	NCBI36
NG_008674.1:g.24552G>A , LRG_475:g.24552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.269G>A
ENST00000361866.8:c.1870G>A MANE Select	ENSP00000355180.3:p.Glu624Lys
ENST00000361866.7:c.1870G>A	ENSP00000355180.3:p.Glu624Lys
ENST00000463060.5:n.269G>A
ENST00000498614.5:n.104G>A
ENST00000612273.1:c.1864G>A	ENSP00000483630.1:p.Glu622Lys
NM_001848.2:c.1870G>A , LRG_475t1:c.1870G>A	NP_001839.2:p.Glu624Lys
NM_001848.3:c.1870G>A MANE Select	NP_001839.2:p.Glu624Lys