Canonical Allele Identifier: CA410533536

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47421245C>A (hg19) ; chr21:g.46001331C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001331C>A , CM000683.2:g.46001331C>A	GRCh38
NC_000021.8:g.47421245C>A , CM000683.1:g.47421245C>A	GRCh37
NC_000021.7:g.46245673C>A	NCBI36
NG_008674.1:g.24583C>A , LRG_475:g.24583C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.300C>A
ENST00000612273.2:c.27C>A
ENST00000682634.1:c.27C>A
ENST00000361866.8:c.1901C>A MANE Select	ENSP00000355180.3:p.Ala634Asp
ENST00000361866.7:c.1901C>A	ENSP00000355180.3:p.Ala634Asp
ENST00000463060.5:n.300C>A
ENST00000498614.5:n.135C>A
ENST00000612273.1:c.1895C>A	ENSP00000483630.1:p.Ala632Asp
NM_001848.2:c.1901C>A , LRG_475t1:c.1901C>A	NP_001839.2:p.Ala634Asp
NM_001848.3:c.1901C>A MANE Select	NP_001839.2:p.Ala634Asp