Canonical Allele Identifier: CA1950146316

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391768C= , CM000673.2:g.6391768C=	GRCh38
NC_000011.9:g.6412998C= , CM000673.1:g.6412998C=	GRCh37
NC_000011.8:g.6369574C=	NCBI36
NG_011780.1:g.6344C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.703C= MANE Select	ENSP00000340409.4:p.Leu235=
ENST00000342245.8:c.703C=	ENSP00000340409.4:p.Leu235=
ENST00000527275.5:c.700C=	ENSP00000435350.1:p.Leu234=
ENST00000530395.1:c.-95-22C=	ENSP00000431479.1:n.-95-22C=
ENST00000531303.5:c.438+265C=	ENSP00000432625.1:n.438+265C=
ENST00000533123.5:c.703C=	ENSP00000435950.1:p.Leu235=
ENST00000533196.1:n.375-238C=
ENST00000534405.5:c.703C=	ENSP00000434353.1:p.Leu235=
NM_000543.4:c.703C=	NP_000534.3:p.Leu235=
NM_001007593.2:c.700C=	NP_001007594.2:p.Leu234=
XM_005253075.3:c.703C=	XP_005253132.1:p.Leu235=
XM_011520303.1:c.703C=	XP_011518605.1:p.Leu235=
XM_011520304.1:c.703C=	XP_011518606.1:p.Leu235=
XR_930886.1:n.1001C=
NM_001318087.1:c.703C=	NP_001305016.1:p.Leu235=
NM_001318088.1:c.-259C=	NP_001305017.1:n.-259C=
NM_001365135.1:c.703C=	NP_001352064.1:p.Leu235=
NR_027400.2:n.888C=
NR_134502.1:n.623+265C=
XM_011520304.2:c.703C=	XP_011518606.1:p.Leu235=
XR_001747940.2:n.828C=
XR_002957158.1:n.828C=
NM_000543.5:c.703C= MANE Select	NP_000534.3:p.Leu235=
NM_001007593.3:c.700C=	NP_001007594.2:p.Leu234=
NM_001318087.2:c.703C=	NP_001305016.1:p.Leu235=
NM_001318088.2:c.-259C=	NP_001305017.1:n.-259C=
NM_001365135.2:c.703C=	NP_001352064.1:p.Leu235=
NR_027400.3:n.828C=
NR_134502.2:n.563+265C=