Canonical Allele Identifier: CA1950150213

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394592G= , CM000673.2:g.6394592G=	GRCh38
NC_000011.9:g.6415822G= , CM000673.1:g.6415822G=	GRCh37
NC_000011.8:g.6372398G=	NCBI36
NG_011780.1:g.9168G=
NG_029615.1:g.29823C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1881G= MANE Select	ENSP00000340409.4:p.Arg627=
ENST00000342245.8:c.1881G=	ENSP00000340409.4:p.Arg627=
ENST00000526280.1:c.938G=
ENST00000527275.5:c.1878G=	ENSP00000435350.1:p.Arg626=
ENST00000531303.5:c.*732G=	ENSP00000432625.1:n.*732G=
ENST00000533123.5:c.*608G=	ENSP00000435950.1:n.*608G=
ENST00000534405.5:c.*712G=	ENSP00000434353.1:n.*712G=
NM_000543.4:c.1881G=	NP_000534.3:p.Arg627=
NM_001007593.2:c.1878G=	NP_001007594.2:p.Arg626=
XM_005253075.3:c.*374G=	XP_005253132.1:n.*374G=
XM_011520303.1:c.1749G=	XP_011518605.1:p.Arg583=
NM_001318087.1:c.*374G=	NP_001305016.1:n.*374G=
NM_001318088.1:c.960G=	NP_001305017.1:p.Arg320=
NM_001365135.1:c.1749G=	NP_001352064.1:p.Arg583=
NR_027400.2:n.1894G=
NR_134502.1:n.1433G=
XR_001747940.2:n.2066G=
XR_002957158.1:n.2248G=
NM_000543.5:c.1881G= MANE Select	NP_000534.3:p.Arg627=
NM_001007593.3:c.1878G=	NP_001007594.2:p.Arg626=
NM_001318087.2:c.*374G=	NP_001305016.1:n.*374G=
NM_001318088.2:c.960G=	NP_001305017.1:p.Arg320=
NM_001365135.2:c.1749G=	NP_001352064.1:p.Arg583=
NR_027400.3:n.1834G=
NR_134502.2:n.1373G=