Canonical Allele Identifier: CA512718628

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077843771
• gnomAD v3: 21-46001335-G-A
• gnomAD v4: 21-46001335-G-A
• MyVariant Identifiers: chr21:g.47421249G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001335G>A , CM000683.2:g.46001335G>A	GRCh38
NC_000021.8:g.47421249G>A , CM000683.1:g.47421249G>A	GRCh37
NC_000021.7:g.46245677G>A	NCBI36
NG_008674.1:g.24587G>A , LRG_475:g.24587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.304G>A
ENST00000612273.2:c.31G>A
ENST00000682634.1:c.31G>A
ENST00000361866.8:c.1905G>A MANE Select	ENSP00000355180.3:p.Lys635=
ENST00000361866.7:c.1905G>A	ENSP00000355180.3:p.Lys635=
ENST00000463060.5:n.304G>A
ENST00000498614.5:n.139G>A
ENST00000612273.1:c.1899G>A	ENSP00000483630.1:p.Lys633=
NM_001848.2:c.1905G>A , LRG_475t1:c.1905G>A	NP_001839.2:p.Lys635=
NM_001848.3:c.1905G>A MANE Select	NP_001839.2:p.Lys635=