Canonical Allele Identifier: CA1950150354

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394701T= , CM000673.2:g.6394701T=	GRCh38
NC_000011.9:g.6415931T= , CM000673.1:g.6415931T=	GRCh37
NC_000011.8:g.6372507T=	NCBI36
NG_011780.1:g.9277T=
NG_029615.1:g.29714A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*94T= MANE Select	ENSP00000340409.4:n.*94T=
ENST00000342245.8:c.*94T=	ENSP00000340409.4:n.*94T=
ENST00000526280.1:c.1047T=
ENST00000527275.5:c.*94T=	ENSP00000435350.1:n.*94T=
ENST00000531303.5:c.*841T=	ENSP00000432625.1:n.*841T=
ENST00000533123.5:c.*717T=	ENSP00000435950.1:n.*717T=
ENST00000534405.5:c.*821T=	ENSP00000434353.1:n.*821T=
NM_000543.4:c.*94T=	NP_000534.3:n.*94T=
NM_001007593.2:c.*94T=	NP_001007594.2:n.*94T=
XM_011520303.1:c.*94T=	XP_011518605.1:n.*94T=
NM_001318087.1:c.*483T=	NP_001305016.1:n.*483T=
NM_001318088.1:c.*94T=	NP_001305017.1:n.*94T=
NM_001365135.1:c.*94T=	NP_001352064.1:n.*94T=
NR_027400.2:n.2003T=
NR_134502.1:n.1542T=
XR_001747940.2:n.2175T=
XR_002957158.1:n.2357T=
NM_000543.5:c.*94T= MANE Select	NP_000534.3:n.*94T=
NM_001007593.3:c.*94T=	NP_001007594.2:n.*94T=
NM_001318087.2:c.*483T=	NP_001305016.1:n.*483T=
NM_001318088.2:c.*94T=	NP_001305017.1:n.*94T=
NM_001365135.2:c.*94T=	NP_001352064.1:n.*94T=
NR_027400.3:n.1943T=
NR_134502.2:n.1482T=