Canonical Allele Identifier: CA1950150471

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394825A= , CM000673.2:g.6394825A=	GRCh38
NC_000011.9:g.6416055A= , CM000673.1:g.6416055A=	GRCh37
NC_000011.8:g.6372631A=	NCBI36
NG_011780.1:g.9401A=
NG_029615.1:g.29590T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*218A= MANE Select	ENSP00000340409.4:n.*218A=
ENST00000342245.8:c.*218A=	ENSP00000340409.4:n.*218A=
ENST00000526280.1:c.1171A=
ENST00000533123.5:c.*841A=	ENSP00000435950.1:n.*841A=
ENST00000534405.5:c.*945A=	ENSP00000434353.1:n.*945A=
NM_000543.4:c.*218A=	NP_000534.3:n.*218A=
NM_001007593.2:c.*218A=	NP_001007594.2:n.*218A=
XM_011520303.1:c.*218A=	XP_011518605.1:n.*218A=
NM_001318087.1:c.*607A=	NP_001305016.1:n.*607A=
NM_001318088.1:c.*218A=	NP_001305017.1:n.*218A=
NM_001365135.1:c.*218A=	NP_001352064.1:n.*218A=
NR_027400.2:n.2127A=
NR_134502.1:n.1666A=
XR_001747940.2:n.2299A=
XR_002957158.1:n.2481A=
NM_000543.5:c.*218A= MANE Select	NP_000534.3:n.*218A=
NM_001007593.3:c.*218A=	NP_001007594.2:n.*218A=
NM_001318087.2:c.*607A=	NP_001305016.1:n.*607A=
NM_001318088.2:c.*218A=	NP_001305017.1:n.*218A=
NM_001365135.2:c.*218A=	NP_001352064.1:n.*218A=
NR_027400.3:n.2067A=
NR_134502.2:n.1606A=