Canonical Allele Identifier: CA1950148547

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393688A= , CM000673.2:g.6393688A=	GRCh38
NC_000011.9:g.6414918A= , CM000673.1:g.6414918A=	GRCh37
NC_000011.8:g.6371494A=	NCBI36
NG_011780.1:g.8264A=
NG_029615.1:g.30727T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1335A= MANE Select	ENSP00000340409.4:p.Val445=
ENST00000342245.8:c.1335A=	ENSP00000340409.4:p.Val445=
ENST00000526280.1:c.392A=
ENST00000527275.5:c.1332A=	ENSP00000435350.1:p.Val444=
ENST00000531303.5:c.*166A=	ENSP00000432625.1:n.*166A=
ENST00000531336.1:n.167A=
ENST00000532367.1:n.171A=
ENST00000533123.5:c.*62A=	ENSP00000435950.1:n.*62A=
ENST00000534405.5:c.*166A=	ENSP00000434353.1:n.*166A=
NM_000543.4:c.1335A=	NP_000534.3:p.Val445=
NM_001007593.2:c.1332A=	NP_001007594.2:p.Val444=
XM_005253075.3:c.1335A=	XP_005253132.1:p.Val445=
XM_011520303.1:c.1203A=	XP_011518605.1:p.Val401=
XM_011520304.1:c.1203A=	XP_011518606.1:p.Val401=
XR_930886.1:n.1673A=
NM_001318087.1:c.1335A=	NP_001305016.1:p.Val445=
NM_001318088.1:c.414A=	NP_001305017.1:p.Val138=
NM_001365135.1:c.1203A=	NP_001352064.1:p.Val401=
NR_027400.2:n.1348A=
NR_134502.1:n.867A=
XM_011520304.2:c.1203A=	XP_011518606.1:p.Val401=
XR_001747940.2:n.1500A=
XR_002957158.1:n.1500A=
NM_000543.5:c.1335A= MANE Select	NP_000534.3:p.Val445=
NM_001007593.3:c.1332A=	NP_001007594.2:p.Val444=
NM_001318087.2:c.1335A=	NP_001305016.1:p.Val445=
NM_001318088.2:c.414A=	NP_001305017.1:p.Val138=
NM_001365135.2:c.1203A=	NP_001352064.1:p.Val401=
NR_027400.3:n.1288A=
NR_134502.2:n.807A=