Canonical Allele Identifier: CA513169163

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47404351T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984437T>G , CM000683.2:g.45984437T>G	GRCh38
NC_000021.8:g.47404351T>G , CM000683.1:g.47404351T>G	GRCh37
NC_000021.7:g.46228779T>G	NCBI36
NG_008674.1:g.7689T>G , LRG_475:g.7689T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.396T>G MANE Select	ENSP00000355180.3:p.Ala132=
ENST00000361866.7:c.396T>G	ENSP00000355180.3:p.Ala132=
ENST00000612273.1:c.396T>G	ENSP00000483630.1:p.Ala132=
NM_001848.2:c.396T>G , LRG_475t1:c.396T>G	NP_001839.2:p.Ala132=
NM_001848.3:c.396T>G MANE Select	NP_001839.2:p.Ala132=