Canonical Allele Identifier: CA1178018

Gene: CD1D

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158181578C>T , CM000663.2:g.158181578C>T	GRCh38
NC_000001.10:g.158151368C>T , CM000663.1:g.158151368C>T	GRCh37
NC_000001.9:g.156417992C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368171.5:c.185C>T	ENSP00000357153.3:p.Ser62Leu
ENST00000673623.2:c.185C>T	ENSP00000501066.1:p.Ser62Leu
ENST00000673701.2:c.-128C>T	ENSP00000501010.1:n.-128C>T
ENST00000673723.4:c.185C>T	ENSP00000501245.3:p.Ser62Leu
ENST00000674023.1:n.245C>T
ENST00000674047.1:n.251C>T
ENST00000674085.2:c.185C>T MANE Select	ENSP00000501100.1:p.Ser62Leu
ENST00000368171.3:c.185C>T	ENSP00000357153.3:p.Ser62Leu
NM_001766.3:c.185C>T	NP_001757.1:p.Ser62Leu
XM_005245583.1:c.-128C>T	XP_005245640.1:n.-128C>T
XM_006711620.2:c.185C>T	XP_006711683.1:p.Ser62Leu
XM_006711621.1:c.-128C>T	XP_006711684.1:n.-128C>T
XM_011510125.1:c.185C>T	XP_011508427.1:p.Ser62Leu
XM_011510126.1:c.185C>T	XP_011508428.1:p.Ser62Leu
XM_011510127.1:c.-128C>T	XP_011508429.1:n.-128C>T
XR_921995.1:n.355C>T
XR_921996.1:n.355C>T
NM_001319145.1:c.185C>T	NP_001306074.1:p.Ser62Leu
XR_001737534.2:n.398C>T
XR_921995.3:n.398C>T
XR_921996.3:n.398C>T
NM_001319145.2:c.185C>T	NP_001306074.1:p.Ser62Leu
NM_001371761.1:c.-128C>T	NP_001358690.1:n.-128C>T
NM_001371762.2:c.185C>T MANE Select	NP_001358691.1:p.Ser62Leu
NM_001371763.1:c.185C>T	NP_001358692.1:p.Ser62Leu
NM_001766.4:c.185C>T	NP_001757.1:p.Ser62Leu