Canonical Allele Identifier: CA1950146425

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391976T= , CM000673.2:g.6391976T=	GRCh38
NC_000011.9:g.6413206T= , CM000673.1:g.6413206T=	GRCh37
NC_000011.8:g.6369782T=	NCBI36
NG_011780.1:g.6552T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.911T= MANE Select	ENSP00000340409.4:p.Leu304=
ENST00000342245.8:c.911T=	ENSP00000340409.4:p.Leu304=
ENST00000526280.1:c.100T=
ENST00000527275.5:c.908T=	ENSP00000435350.1:p.Leu303=
ENST00000530395.1:c.92T=	ENSP00000431479.1:p.Leu31=
ENST00000531303.5:c.438+473T=	ENSP00000432625.1:n.438+473T=
ENST00000533123.5:c.911T=	ENSP00000435950.1:p.Leu304=
ENST00000533196.1:n.375-30T=
ENST00000534405.5:c.911T=	ENSP00000434353.1:p.Leu304=
NM_000543.4:c.911T=	NP_000534.3:p.Leu304=
NM_001007593.2:c.908T=	NP_001007594.2:p.Leu303=
XM_005253075.3:c.911T=	XP_005253132.1:p.Leu304=
XM_011520303.1:c.911T=	XP_011518605.1:p.Leu304=
XM_011520304.1:c.911T=	XP_011518606.1:p.Leu304=
XR_930886.1:n.1209T=
NM_001318087.1:c.911T=	NP_001305016.1:p.Leu304=
NM_001318088.1:c.-51T=	NP_001305017.1:n.-51T=
NM_001365135.1:c.911T=	NP_001352064.1:p.Leu304=
NR_027400.2:n.1096T=
NR_134502.1:n.623+473T=
XM_011520304.2:c.911T=	XP_011518606.1:p.Leu304=
XR_001747940.2:n.1036T=
XR_002957158.1:n.1036T=
NM_000543.5:c.911T= MANE Select	NP_000534.3:p.Leu304=
NM_001007593.3:c.908T=	NP_001007594.2:p.Leu303=
NM_001318087.2:c.911T=	NP_001305016.1:p.Leu304=
NM_001318088.2:c.-51T=	NP_001305017.1:n.-51T=
NM_001365135.2:c.911T=	NP_001352064.1:p.Leu304=
NR_027400.3:n.1036T=
NR_134502.2:n.563+473T=