Canonical Allele Identifier: CA2392430140
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984502T= , CM000683.2:g.45984502T= GRCh38
NC_000021.8:g.47404416T= , CM000683.1:g.47404416T= GRCh37
NC_000021.7:g.46228844T= NCBI36
NG_008674.1:g.7754T= , LRG_475:g.7754T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.428+33T= MANE Select ENSP00000355180.3:n.428+33T=
ENST00000361866.7:c.428+33T= ENSP00000355180.3:n.428+33T=
ENST00000612273.1:c.428+33T= ENSP00000483630.1:n.428+33T=
NM_001848.2:c.428+33T= , LRG_475t1:c.428+33T= NP_001839.2:n.428+33T=
NM_001848.3:c.428+33T= MANE Select NP_001839.2:n.428+33T=