Canonical Allele Identifier: CA1950149663

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394337A= , CM000673.2:g.6394337A=	GRCh38
NC_000011.9:g.6415567A= , CM000673.1:g.6415567A=	GRCh37
NC_000011.8:g.6372143A=	NCBI36
NG_011780.1:g.8913A=
NG_029615.1:g.30078T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1626A= MANE Select	ENSP00000340409.4:p.Arg542=
ENST00000342245.8:c.1626A=	ENSP00000340409.4:p.Arg542=
ENST00000526280.1:c.683A=
ENST00000527275.5:c.1623A=	ENSP00000435350.1:p.Arg541=
ENST00000531303.5:c.*477A=	ENSP00000432625.1:n.*477A=
ENST00000531336.1:n.614A=
ENST00000533123.5:c.*353A=	ENSP00000435950.1:n.*353A=
ENST00000534405.5:c.*457A=	ENSP00000434353.1:n.*457A=
NM_000543.4:c.1626A=	NP_000534.3:p.Arg542=
NM_001007593.2:c.1623A=	NP_001007594.2:p.Arg541=
XM_005253075.3:c.*119A=	XP_005253132.1:n.*119A=
XM_011520303.1:c.1494A=	XP_011518605.1:p.Arg498=
XM_011520304.1:c.*119A=	XP_011518606.1:n.*119A=
NM_001318087.1:c.*119A=	NP_001305016.1:n.*119A=
NM_001318088.1:c.705A=	NP_001305017.1:p.Arg235=
NM_001365135.1:c.1494A=	NP_001352064.1:p.Arg498=
NR_027400.2:n.1639A=
NR_134502.1:n.1178A=
XM_011520304.2:c.*119A=	XP_011518606.1:n.*119A=
XR_001747940.2:n.1811A=
XR_002957158.1:n.1993A=
NM_000543.5:c.1626A= MANE Select	NP_000534.3:p.Arg542=
NM_001007593.3:c.1623A=	NP_001007594.2:p.Arg541=
NM_001318087.2:c.*119A=	NP_001305016.1:n.*119A=
NM_001318088.2:c.705A=	NP_001305017.1:p.Arg235=
NM_001365135.2:c.1494A=	NP_001352064.1:p.Arg498=
NR_027400.3:n.1579A=
NR_134502.2:n.1118A=