Canonical Allele Identifier: CA2392434268
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990524G= , CM000683.2:g.45990524G= GRCh38
NC_000021.8:g.47410438G= , CM000683.1:g.47410438G= GRCh37
NC_000021.7:g.46234866G= NCBI36
NG_008674.1:g.13776G= , LRG_475:g.13776G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+102G= MANE Select ENSP00000355180.3:n.1002+102G=
ENST00000361866.7:c.1002+102G= ENSP00000355180.3:n.1002+102G=
ENST00000612273.1:c.1002+102G= ENSP00000483630.1:n.1002+102G=
NM_001848.2:c.1002+102G= , LRG_475t1:c.1002+102G= NP_001839.2:n.1002+102G=
NM_001848.3:c.1002+102G= MANE Select NP_001839.2:n.1002+102G=