Canonical Allele Identifier: CA410532956

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47421172A>G (hg19) ; chr21:g.46001258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001258A>G , CM000683.2:g.46001258A>G	GRCh38
NC_000021.8:g.47421172A>G , CM000683.1:g.47421172A>G	GRCh37
NC_000021.7:g.46245600A>G	NCBI36
NG_008674.1:g.24510A>G , LRG_475:g.24510A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.227A>G
ENST00000361866.8:c.1828A>G MANE Select	ENSP00000355180.3:p.Lys610Glu
ENST00000361866.7:c.1828A>G	ENSP00000355180.3:p.Lys610Glu
ENST00000463060.5:n.227A>G
ENST00000498614.5:n.62A>G
ENST00000612273.1:c.1822A>G	ENSP00000483630.1:p.Lys608Glu
NM_001848.2:c.1828A>G , LRG_475t1:c.1828A>G	NP_001839.2:p.Lys610Glu
NM_001848.3:c.1828A>G MANE Select	NP_001839.2:p.Lys610Glu