Canonical Allele Identifier: CA410533699

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47421273C>G (hg19) ; chr21:g.46001359C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001359C>G , CM000683.2:g.46001359C>G	GRCh38
NC_000021.8:g.47421273C>G , CM000683.1:g.47421273C>G	GRCh37
NC_000021.7:g.46245701C>G	NCBI36
NG_008674.1:g.24611C>G , LRG_475:g.24611C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.328C>G
ENST00000612273.2:c.55C>G
ENST00000682634.1:c.55C>G
ENST00000361866.8:c.1929C>G MANE Select	ENSP00000355180.3:p.Asp643Glu
ENST00000361866.7:c.1929C>G	ENSP00000355180.3:p.Asp643Glu
ENST00000463060.5:n.328C>G
ENST00000498614.5:n.163C>G
ENST00000612273.1:c.1923C>G	ENSP00000483630.1:p.Asp641Glu
NM_001848.2:c.1929C>G , LRG_475t1:c.1929C>G	NP_001839.2:p.Asp643Glu
NM_001848.3:c.1929C>G MANE Select	NP_001839.2:p.Asp643Glu