Canonical Allele Identifier: CA1950146306

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391753C= , CM000673.2:g.6391753C=	GRCh38
NC_000011.9:g.6412983C= , CM000673.1:g.6412983C=	GRCh37
NC_000011.8:g.6369559C=	NCBI36
NG_011780.1:g.6329C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.688C= MANE Select	ENSP00000340409.4:p.Arg230=
ENST00000342245.8:c.688C=	ENSP00000340409.4:p.Arg230=
ENST00000527275.5:c.685C=	ENSP00000435350.1:p.Arg229=
ENST00000530395.1:c.-95-37C=	ENSP00000431479.1:n.-95-37C=
ENST00000531303.5:c.438+250C=	ENSP00000432625.1:n.438+250C=
ENST00000533123.5:c.688C=	ENSP00000435950.1:p.Arg230=
ENST00000533196.1:n.375-253C=
ENST00000534405.5:c.688C=	ENSP00000434353.1:p.Arg230=
NM_000543.4:c.688C=	NP_000534.3:p.Arg230=
NM_001007593.2:c.685C=	NP_001007594.2:p.Arg229=
XM_005253075.3:c.688C=	XP_005253132.1:p.Arg230=
XM_011520303.1:c.688C=	XP_011518605.1:p.Arg230=
XM_011520304.1:c.688C=	XP_011518606.1:p.Arg230=
XR_930886.1:n.986C=
NM_001318087.1:c.688C=	NP_001305016.1:p.Arg230=
NM_001318088.1:c.-274C=	NP_001305017.1:n.-274C=
NM_001365135.1:c.688C=	NP_001352064.1:p.Arg230=
NR_027400.2:n.873C=
NR_134502.1:n.623+250C=
XM_011520304.2:c.688C=	XP_011518606.1:p.Arg230=
XR_001747940.2:n.813C=
XR_002957158.1:n.813C=
NM_000543.5:c.688C= MANE Select	NP_000534.3:p.Arg230=
NM_001007593.3:c.685C=	NP_001007594.2:p.Arg229=
NM_001318087.2:c.688C=	NP_001305016.1:p.Arg230=
NM_001318088.2:c.-274C=	NP_001305017.1:n.-274C=
NM_001365135.2:c.688C=	NP_001352064.1:p.Arg230=
NR_027400.3:n.813C=
NR_134502.2:n.563+250C=