Canonical Allele Identifier: CA2392440378
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001220G= , CM000683.2:g.46001220G= GRCh38
NC_000021.8:g.47421134G= , CM000683.1:g.47421134G= GRCh37
NC_000021.7:g.46245562G= NCBI36
NG_008674.1:g.24472G= , LRG_475:g.24472G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.222-33G=
ENST00000361866.8:c.1823-33G= MANE Select ENSP00000355180.3:n.1823-33G=
ENST00000361866.7:c.1823-33G= ENSP00000355180.3:n.1823-33G=
ENST00000463060.5:n.222-33G=
ENST00000498614.5:n.24G=
ENST00000612273.1:c.1817-33G= ENSP00000483630.1:n.1817-33G=
NM_001848.2:c.1823-33G= , LRG_475t1:c.1823-33G= NP_001839.2:n.1823-33G=
NM_001848.3:c.1823-33G= MANE Select NP_001839.2:n.1823-33G=