Canonical Allele Identifier: CA1179137

Gene: CD1B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158329417C>T , CM000663.2:g.158329417C>T	GRCh38
NC_000001.10:g.158299207C>T , CM000663.1:g.158299207C>T	GRCh37
NC_000001.9:g.156565831C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001764.3:c.839G>A MANE Select	NP_001755.1:p.Arg280Gln
ENST00000368168.4:c.839G>A MANE Select	ENSP00000357150.3:p.Arg280Gln
NM_001764.2:c.839G>A	NP_001755.1:p.Arg280Gln
ENST00000368168.3:c.839G>A	ENSP00000357150.3:p.Arg280Gln
ENST00000451207.5:c.623+118G>A
XM_011510119.1:c.721+118G>A	XP_011508421.1:n.721+118G>A
XM_011510119.3:c.721+118G>A	XP_011508421.1:n.721+118G>A
XM_017002784.2:c.607+435G>A	XP_016858273.1:n.607+435G>A
XM_017002785.2:c.607+435G>A	XP_016858274.1:n.607+435G>A
XM_017002786.2:c.607+435G>A	XP_016858275.1:n.607+435G>A