Canonical Allele Identifier: CA1950150581

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394944T= , CM000673.2:g.6394944T=	GRCh38
NC_000011.9:g.6416174T= , CM000673.1:g.6416174T=	GRCh37
NC_000011.8:g.6372750T=	NCBI36
NG_011780.1:g.9520T=
NG_029615.1:g.29471A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*337T= MANE Select	ENSP00000340409.4:n.*337T=
ENST00000342245.8:c.*337T=	ENSP00000340409.4:n.*337T=
ENST00000526280.1:c.1290T=
ENST00000533123.5:c.*960T=	ENSP00000435950.1:n.*960T=
ENST00000534405.5:c.*1064T=	ENSP00000434353.1:n.*1064T=
NM_000543.4:c.*337T=	NP_000534.3:n.*337T=
NM_001007593.2:c.*337T=	NP_001007594.2:n.*337T=
XM_011520303.1:c.*337T=	XP_011518605.1:n.*337T=
NM_001318087.1:c.*726T=	NP_001305016.1:n.*726T=
NM_001318088.1:c.*337T=	NP_001305017.1:n.*337T=
NM_001365135.1:c.*337T=	NP_001352064.1:n.*337T=
NR_027400.2:n.2246T=
NR_134502.1:n.1785T=
XR_001747940.2:n.2418T=
XR_002957158.1:n.2600T=
NM_000543.5:c.*337T= MANE Select	NP_000534.3:n.*337T=
NM_001007593.3:c.*337T=	NP_001007594.2:n.*337T=
NM_001318087.2:c.*726T=	NP_001305016.1:n.*726T=
NM_001318088.2:c.*337T=	NP_001305017.1:n.*337T=
NM_001365135.2:c.*337T=	NP_001352064.1:n.*337T=
NR_027400.3:n.2186T=
NR_134502.2:n.1725T=