Canonical Allele Identifier: CA410533759

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47421286G>C (hg19) ; chr21:g.46001372G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001372G>C , CM000683.2:g.46001372G>C	GRCh38
NC_000021.8:g.47421286G>C , CM000683.1:g.47421286G>C	GRCh37
NC_000021.7:g.46245714G>C	NCBI36
NG_008674.1:g.24624G>C , LRG_475:g.24624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.341G>C
ENST00000612273.2:c.68G>C
ENST00000682634.1:c.68G>C
ENST00000361866.8:c.1942G>C MANE Select	ENSP00000355180.3:p.Asp648His
ENST00000361866.7:c.1942G>C	ENSP00000355180.3:p.Asp648His
ENST00000463060.5:n.341G>C
ENST00000498614.5:n.176G>C
ENST00000612273.1:c.1936G>C	ENSP00000483630.1:p.Asp646His
NM_001848.2:c.1942G>C , LRG_475t1:c.1942G>C	NP_001839.2:p.Asp648His
NM_001848.3:c.1942G>C MANE Select	NP_001839.2:p.Asp648His