Canonical Allele Identifier: CA1950149889

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394424C= , CM000673.2:g.6394424C=	GRCh38
NC_000011.9:g.6415654C= , CM000673.1:g.6415654C=	GRCh37
NC_000011.8:g.6372230C=	NCBI36
NG_011780.1:g.9000C=
NG_029615.1:g.29991G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1713C= MANE Select	ENSP00000340409.4:p.Thr571=
ENST00000342245.8:c.1713C=	ENSP00000340409.4:p.Thr571=
ENST00000526280.1:c.770C=
ENST00000527275.5:c.1710C=	ENSP00000435350.1:p.Thr570=
ENST00000531303.5:c.*564C=	ENSP00000432625.1:n.*564C=
ENST00000533123.5:c.*440C=	ENSP00000435950.1:n.*440C=
ENST00000534405.5:c.*544C=	ENSP00000434353.1:n.*544C=
NM_000543.4:c.1713C=	NP_000534.3:p.Thr571=
NM_001007593.2:c.1710C=	NP_001007594.2:p.Thr570=
XM_005253075.3:c.*206C=	XP_005253132.1:n.*206C=
XM_011520303.1:c.1581C=	XP_011518605.1:p.Thr527=
XM_011520304.1:c.*206C=	XP_011518606.1:n.*206C=
NM_001318087.1:c.*206C=	NP_001305016.1:n.*206C=
NM_001318088.1:c.792C=	NP_001305017.1:p.Thr264=
NM_001365135.1:c.1581C=	NP_001352064.1:p.Thr527=
NR_027400.2:n.1726C=
NR_134502.1:n.1265C=
XM_011520304.2:c.*206C=	XP_011518606.1:n.*206C=
XR_001747940.2:n.1898C=
XR_002957158.1:n.2080C=
NM_000543.5:c.1713C= MANE Select	NP_000534.3:p.Thr571=
NM_001007593.3:c.1710C=	NP_001007594.2:p.Thr570=
NM_001318087.2:c.*206C=	NP_001305016.1:n.*206C=
NM_001318088.2:c.792C=	NP_001305017.1:p.Thr264=
NM_001365135.2:c.1581C=	NP_001352064.1:p.Thr527=
NR_027400.3:n.1666C=
NR_134502.2:n.1205C=