Canonical Allele Identifier: CA2392433261
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45988977T= , CM000683.2:g.45988977T= GRCh38
NC_000021.8:g.47408891T= , CM000683.1:g.47408891T= GRCh37
NC_000021.7:g.46233319T= NCBI36
NG_008674.1:g.12229T= , LRG_475:g.12229T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.805-107T= MANE Select ENSP00000355180.3:n.805-107T=
ENST00000361866.7:c.805-107T= ENSP00000355180.3:n.805-107T=
ENST00000612273.1:c.805-107T= ENSP00000483630.1:n.805-107T=
NM_001848.2:c.805-107T= , LRG_475t1:c.805-107T= NP_001839.2:n.805-107T=
NM_001848.3:c.805-107T= MANE Select NP_001839.2:n.805-107T=