Canonical Allele Identifier: CA410533526

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47421243T>G (hg19) ; chr21:g.46001329T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001329T>G , CM000683.2:g.46001329T>G	GRCh38
NC_000021.8:g.47421243T>G , CM000683.1:g.47421243T>G	GRCh37
NC_000021.7:g.46245671T>G	NCBI36
NG_008674.1:g.24581T>G , LRG_475:g.24581T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.298T>G
ENST00000612273.2:c.25T>G
ENST00000682634.1:c.25T>G
ENST00000361866.8:c.1899T>G MANE Select	ENSP00000355180.3:p.Ile633Met
ENST00000361866.7:c.1899T>G	ENSP00000355180.3:p.Ile633Met
ENST00000463060.5:n.298T>G
ENST00000498614.5:n.133T>G
ENST00000612273.1:c.1893T>G	ENSP00000483630.1:p.Ile631Met
NM_001848.2:c.1899T>G , LRG_475t1:c.1899T>G	NP_001839.2:p.Ile633Met
NM_001848.3:c.1899T>G MANE Select	NP_001839.2:p.Ile633Met