Canonical Allele Identifier: CA1950149536

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394274G= , CM000673.2:g.6394274G=	GRCh38
NC_000011.9:g.6415504G= , CM000673.1:g.6415504G=	GRCh37
NC_000011.8:g.6372080G=	NCBI36
NG_011780.1:g.8850G=
NG_029615.1:g.30141C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1563G= MANE Select	ENSP00000340409.4:p.Leu521=
ENST00000342245.8:c.1563G=	ENSP00000340409.4:p.Leu521=
ENST00000526280.1:c.620G=
ENST00000527275.5:c.1560G=	ENSP00000435350.1:p.Leu520=
ENST00000531303.5:c.*414G=	ENSP00000432625.1:n.*414G=
ENST00000531336.1:n.551G=
ENST00000533123.5:c.*290G=	ENSP00000435950.1:n.*290G=
ENST00000534405.5:c.*394G=	ENSP00000434353.1:n.*394G=
NM_000543.4:c.1563G=	NP_000534.3:p.Leu521=
NM_001007593.2:c.1560G=	NP_001007594.2:p.Leu520=
XM_005253075.3:c.*56G=	XP_005253132.1:n.*56G=
XM_011520303.1:c.1431G=	XP_011518605.1:p.Leu477=
XM_011520304.1:c.*56G=	XP_011518606.1:n.*56G=
NM_001318087.1:c.*56G=	NP_001305016.1:n.*56G=
NM_001318088.1:c.642G=	NP_001305017.1:p.Leu214=
NM_001365135.1:c.1431G=	NP_001352064.1:p.Leu477=
NR_027400.2:n.1576G=
NR_134502.1:n.1115G=
XM_011520304.2:c.*56G=	XP_011518606.1:n.*56G=
XR_001747940.2:n.1748G=
XR_002957158.1:n.1930G=
NM_000543.5:c.1563G= MANE Select	NP_000534.3:p.Leu521=
NM_001007593.3:c.1560G=	NP_001007594.2:p.Leu520=
NM_001318087.2:c.*56G=	NP_001305016.1:n.*56G=
NM_001318088.2:c.642G=	NP_001305017.1:p.Leu214=
NM_001365135.2:c.1431G=	NP_001352064.1:p.Leu477=
NR_027400.3:n.1516G=
NR_134502.2:n.1055G=