Canonical Allele Identifier: CA2392434177
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990458G= , CM000683.2:g.45990458G= GRCh38
NC_000021.8:g.47410372G= , CM000683.1:g.47410372G= GRCh37
NC_000021.7:g.46234800G= NCBI36
NG_008674.1:g.13710G= , LRG_475:g.13710G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+36G= MANE Select ENSP00000355180.3:n.1002+36G=
ENST00000361866.7:c.1002+36G= ENSP00000355180.3:n.1002+36G=
ENST00000612273.1:c.1002+36G= ENSP00000483630.1:n.1002+36G=
NM_001848.2:c.1002+36G= , LRG_475t1:c.1002+36G= NP_001839.2:n.1002+36G=
NM_001848.3:c.1002+36G= MANE Select NP_001839.2:n.1002+36G=