Canonical Allele Identifier: CA1950150435

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394785G= , CM000673.2:g.6394785G=	GRCh38
NC_000011.9:g.6416015G= , CM000673.1:g.6416015G=	GRCh37
NC_000011.8:g.6372591G=	NCBI36
NG_011780.1:g.9361G=
NG_029615.1:g.29630C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*178G= MANE Select	ENSP00000340409.4:n.*178G=
ENST00000342245.8:c.*178G=	ENSP00000340409.4:n.*178G=
ENST00000526280.1:c.1131G=
ENST00000533123.5:c.*801G=	ENSP00000435950.1:n.*801G=
ENST00000534405.5:c.*905G=	ENSP00000434353.1:n.*905G=
NM_000543.4:c.*178G=	NP_000534.3:n.*178G=
NM_001007593.2:c.*178G=	NP_001007594.2:n.*178G=
XM_011520303.1:c.*178G=	XP_011518605.1:n.*178G=
NM_001318087.1:c.*567G=	NP_001305016.1:n.*567G=
NM_001318088.1:c.*178G=	NP_001305017.1:n.*178G=
NM_001365135.1:c.*178G=	NP_001352064.1:n.*178G=
NR_027400.2:n.2087G=
NR_134502.1:n.1626G=
XR_001747940.2:n.2259G=
XR_002957158.1:n.2441G=
NM_000543.5:c.*178G= MANE Select	NP_000534.3:n.*178G=
NM_001007593.3:c.*178G=	NP_001007594.2:n.*178G=
NM_001318087.2:c.*567G=	NP_001305016.1:n.*567G=
NM_001318088.2:c.*178G=	NP_001305017.1:n.*178G=
NM_001365135.2:c.*178G=	NP_001352064.1:n.*178G=
NR_027400.3:n.2027G=
NR_134502.2:n.1566G=