Canonical Allele Identifier: CA1950149976

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394481C= , CM000673.2:g.6394481C=	GRCh38
NC_000011.9:g.6415711C= , CM000673.1:g.6415711C=	GRCh37
NC_000011.8:g.6372287C=	NCBI36
NG_011780.1:g.9057C=
NG_029615.1:g.29934G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1770C= MANE Select	ENSP00000340409.4:p.Cys590=
ENST00000342245.8:c.1770C=	ENSP00000340409.4:p.Cys590=
ENST00000526280.1:c.827C=
ENST00000527275.5:c.1767C=	ENSP00000435350.1:p.Cys589=
ENST00000531303.5:c.*621C=	ENSP00000432625.1:n.*621C=
ENST00000533123.5:c.*497C=	ENSP00000435950.1:n.*497C=
ENST00000534405.5:c.*601C=	ENSP00000434353.1:n.*601C=
NM_000543.4:c.1770C=	NP_000534.3:p.Cys590=
NM_001007593.2:c.1767C=	NP_001007594.2:p.Cys589=
XM_005253075.3:c.*263C=	XP_005253132.1:n.*263C=
XM_011520303.1:c.1638C=	XP_011518605.1:p.Cys546=
XM_011520304.1:c.*263C=	XP_011518606.1:n.*263C=
NM_001318087.1:c.*263C=	NP_001305016.1:n.*263C=
NM_001318088.1:c.849C=	NP_001305017.1:p.Cys283=
NM_001365135.1:c.1638C=	NP_001352064.1:p.Cys546=
NR_027400.2:n.1783C=
NR_134502.1:n.1322C=
XM_011520304.2:c.*263C=	XP_011518606.1:n.*263C=
XR_001747940.2:n.1955C=
XR_002957158.1:n.2137C=
NM_000543.5:c.1770C= MANE Select	NP_000534.3:p.Cys590=
NM_001007593.3:c.1767C=	NP_001007594.2:p.Cys589=
NM_001318087.2:c.*263C=	NP_001305016.1:n.*263C=
NM_001318088.2:c.849C=	NP_001305017.1:p.Cys283=
NM_001365135.2:c.1638C=	NP_001352064.1:p.Cys546=
NR_027400.3:n.1723C=
NR_134502.2:n.1262C=