Canonical Allele Identifier: CA1950150565

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394926G= , CM000673.2:g.6394926G=	GRCh38
NC_000011.9:g.6416156G= , CM000673.1:g.6416156G=	GRCh37
NC_000011.8:g.6372732G=	NCBI36
NG_011780.1:g.9502G=
NG_029615.1:g.29489C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*319G= MANE Select	ENSP00000340409.4:n.*319G=
ENST00000342245.8:c.*319G=	ENSP00000340409.4:n.*319G=
ENST00000526280.1:c.1272G=
ENST00000533123.5:c.*942G=	ENSP00000435950.1:n.*942G=
ENST00000534405.5:c.*1046G=	ENSP00000434353.1:n.*1046G=
NM_000543.4:c.*319G=	NP_000534.3:n.*319G=
NM_001007593.2:c.*319G=	NP_001007594.2:n.*319G=
XM_011520303.1:c.*319G=	XP_011518605.1:n.*319G=
NM_001318087.1:c.*708G=	NP_001305016.1:n.*708G=
NM_001318088.1:c.*319G=	NP_001305017.1:n.*319G=
NM_001365135.1:c.*319G=	NP_001352064.1:n.*319G=
NR_027400.2:n.2228G=
NR_134502.1:n.1767G=
XR_001747940.2:n.2400G=
XR_002957158.1:n.2582G=
NM_000543.5:c.*319G= MANE Select	NP_000534.3:n.*319G=
NM_001007593.3:c.*319G=	NP_001007594.2:n.*319G=
NM_001318087.2:c.*708G=	NP_001305016.1:n.*708G=
NM_001318088.2:c.*319G=	NP_001305017.1:n.*319G=
NM_001365135.2:c.*319G=	NP_001352064.1:n.*319G=
NR_027400.3:n.2168G=
NR_134502.2:n.1707G=