Canonical Allele Identifier: CA1950150573

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394933T= , CM000673.2:g.6394933T=	GRCh38
NC_000011.9:g.6416163T= , CM000673.1:g.6416163T=	GRCh37
NC_000011.8:g.6372739T=	NCBI36
NG_011780.1:g.9509T=
NG_029615.1:g.29482A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*326T= MANE Select	ENSP00000340409.4:n.*326T=
ENST00000342245.8:c.*326T=	ENSP00000340409.4:n.*326T=
ENST00000526280.1:c.1279T=
ENST00000533123.5:c.*949T=	ENSP00000435950.1:n.*949T=
ENST00000534405.5:c.*1053T=	ENSP00000434353.1:n.*1053T=
NM_000543.4:c.*326T=	NP_000534.3:n.*326T=
NM_001007593.2:c.*326T=	NP_001007594.2:n.*326T=
XM_011520303.1:c.*326T=	XP_011518605.1:n.*326T=
NM_001318087.1:c.*715T=	NP_001305016.1:n.*715T=
NM_001318088.1:c.*326T=	NP_001305017.1:n.*326T=
NM_001365135.1:c.*326T=	NP_001352064.1:n.*326T=
NR_027400.2:n.2235T=
NR_134502.1:n.1774T=
XR_001747940.2:n.2407T=
XR_002957158.1:n.2589T=
NM_000543.5:c.*326T= MANE Select	NP_000534.3:n.*326T=
NM_001007593.3:c.*326T=	NP_001007594.2:n.*326T=
NM_001318087.2:c.*715T=	NP_001305016.1:n.*715T=
NM_001318088.2:c.*326T=	NP_001305017.1:n.*326T=
NM_001365135.2:c.*326T=	NP_001352064.1:n.*326T=
NR_027400.3:n.2175T=
NR_134502.2:n.1714T=