Canonical Allele Identifier: CA2392433324
Community Standard Title: NM_001848.3(COL6A1):c.815G= (p.Gly272=)
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45989094G= , CM000683.2:g.45989094G= GRCh38
NC_000021.8:g.47409008G= , CM000683.1:g.47409008G= GRCh37
NC_000021.7:g.46233436G= NCBI36
NG_008674.1:g.12346G= , LRG_475:g.12346G=

Transcript Alleles

HGVS Amino-acid Change
NM_001848.3:c.815G= MANE Select NP_001839.2:p.Gly272=
ENST00000361866.8:c.815G= MANE Select ENSP00000355180.3:p.Gly272=
NM_001848.2:c.815G= , LRG_475t1:c.815G= NP_001839.2:p.Gly272=
ENST00000361866.7:c.815G= ENSP00000355180.3:p.Gly272=
ENST00000612273.1:c.815G= ENSP00000483630.1:p.Gly272=