Canonical Allele Identifier: CA1950149406

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394233G= , CM000673.2:g.6394233G=	GRCh38
NC_000011.9:g.6415463G= , CM000673.1:g.6415463G=	GRCh37
NC_000011.8:g.6372039G=	NCBI36
NG_011780.1:g.8809G=
NG_029615.1:g.30182C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1522G= MANE Select	ENSP00000340409.4:p.Gly508=
ENST00000342245.8:c.1522G=	ENSP00000340409.4:p.Gly508=
ENST00000526280.1:c.579G=
ENST00000527275.5:c.1519G=	ENSP00000435350.1:p.Gly507=
ENST00000531303.5:c.*373G=	ENSP00000432625.1:n.*373G=
ENST00000531336.1:n.510G=
ENST00000533123.5:c.*249G=	ENSP00000435950.1:n.*249G=
ENST00000534405.5:c.*353G=	ENSP00000434353.1:n.*353G=
NM_000543.4:c.1522G=	NP_000534.3:p.Gly508=
NM_001007593.2:c.1519G=	NP_001007594.2:p.Gly507=
XM_005253075.3:c.*15G=	XP_005253132.1:n.*15G=
XM_011520303.1:c.1390G=	XP_011518605.1:p.Gly464=
XM_011520304.1:c.*15G=	XP_011518606.1:n.*15G=
NM_001318087.1:c.*15G=	NP_001305016.1:n.*15G=
NM_001318088.1:c.601G=	NP_001305017.1:p.Gly201=
NM_001365135.1:c.1390G=	NP_001352064.1:p.Gly464=
NR_027400.2:n.1535G=
NR_134502.1:n.1074G=
XM_011520304.2:c.*15G=	XP_011518606.1:n.*15G=
XR_001747940.2:n.1707G=
XR_002957158.1:n.1889G=
NM_000543.5:c.1522G= MANE Select	NP_000534.3:p.Gly508=
NM_001007593.3:c.1519G=	NP_001007594.2:p.Gly507=
NM_001318087.2:c.*15G=	NP_001305016.1:n.*15G=
NM_001318088.2:c.601G=	NP_001305017.1:p.Gly201=
NM_001365135.2:c.1390G=	NP_001352064.1:p.Gly464=
NR_027400.3:n.1475G=
NR_134502.2:n.1014G=