Canonical Allele Identifier: CA2392434111
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990394G= , CM000683.2:g.45990394G= GRCh38
NC_000021.8:g.47410308G= , CM000683.1:g.47410308G= GRCh37
NC_000021.7:g.46234736G= NCBI36
NG_008674.1:g.13646G= , LRG_475:g.13646G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.974G= MANE Select ENSP00000355180.3:p.Arg325=
ENST00000361866.7:c.974G= ENSP00000355180.3:p.Arg325=
ENST00000612273.1:c.974G= ENSP00000483630.1:p.Arg325=
NM_001848.2:c.974G= , LRG_475t1:c.974G= NP_001839.2:p.Arg325=
NM_001848.3:c.974G= MANE Select NP_001839.2:p.Arg325=