Canonical Allele Identifier: CA410516116

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47404300C>G (hg19) ; chr21:g.45984386C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984386C>G , CM000683.2:g.45984386C>G	GRCh38
NC_000021.8:g.47404300C>G , CM000683.1:g.47404300C>G	GRCh37
NC_000021.7:g.46228728C>G	NCBI36
NG_008674.1:g.7638C>G , LRG_475:g.7638C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.345C>G MANE Select	ENSP00000355180.3:p.Ser115Arg
ENST00000361866.7:c.345C>G	ENSP00000355180.3:p.Ser115Arg
ENST00000612273.1:c.345C>G	ENSP00000483630.1:p.Ser115Arg
NM_001848.2:c.345C>G , LRG_475t1:c.345C>G	NP_001839.2:p.Ser115Arg
NM_001848.3:c.345C>G MANE Select	NP_001839.2:p.Ser115Arg