Canonical Allele Identifier: CA342985479

Gene: CD1D

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158181458C>G , CM000663.2:g.158181458C>G	GRCh38
NC_000001.10:g.158151248C>G , CM000663.1:g.158151248C>G	GRCh37
NC_000001.9:g.156417872C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001371762.2:c.65C>G MANE Select	NP_001358691.1:p.Pro22Arg
ENST00000674085.2:c.65C>G MANE Select	ENSP00000501100.1:p.Pro22Arg
NM_001319145.1:c.65C>G	NP_001306074.1:p.Pro22Arg
NM_001319145.2:c.65C>G	NP_001306074.1:p.Pro22Arg
NM_001371761.1:c.-216-32C>G	NP_001358690.1:n.-216-32C>G
NM_001371763.1:c.65C>G	NP_001358692.1:p.Pro22Arg
NM_001766.3:c.65C>G	NP_001757.1:p.Pro22Arg
NM_001766.4:c.65C>G	NP_001757.1:p.Pro22Arg
ENST00000368171.3:c.65C>G	ENSP00000357153.3:p.Pro22Arg
ENST00000368171.5:c.65C>G	ENSP00000357153.3:p.Pro22Arg
ENST00000673623.2:c.65C>G	ENSP00000501066.1:p.Pro22Arg
ENST00000673701.2:c.-216-32C>G	ENSP00000501010.1:n.-216-32C>G
ENST00000673723.4:c.65C>G	ENSP00000501245.3:p.Pro22Arg
ENST00000674023.1:n.157-32C>G
ENST00000674047.1:n.131C>G
XM_005245583.1:c.-216-32C>G	XP_005245640.1:n.-216-32C>G
XM_006711620.2:c.65C>G	XP_006711683.1:p.Pro22Arg
XM_006711621.1:c.-216-32C>G	XP_006711684.1:n.-216-32C>G
XM_011510125.1:c.65C>G	XP_011508427.1:p.Pro22Arg
XM_011510126.1:c.65C>G	XP_011508428.1:p.Pro22Arg
XM_011510127.1:c.-248C>G	XP_011508429.1:n.-248C>G
XR_001737534.2:n.278C>G
XR_921995.1:n.235C>G
XR_921995.3:n.278C>G
XR_921996.1:n.235C>G
XR_921996.3:n.278C>G