Canonical Allele Identifier: CA1950149551

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394282C= , CM000673.2:g.6394282C=	GRCh38
NC_000011.9:g.6415512C= , CM000673.1:g.6415512C=	GRCh37
NC_000011.8:g.6372088C=	NCBI36
NG_011780.1:g.8858C=
NG_029615.1:g.30133G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1571C= MANE Select	ENSP00000340409.4:p.Thr524=
ENST00000342245.8:c.1571C=	ENSP00000340409.4:p.Thr524=
ENST00000526280.1:c.628C=
ENST00000527275.5:c.1568C=	ENSP00000435350.1:p.Thr523=
ENST00000531303.5:c.*422C=	ENSP00000432625.1:n.*422C=
ENST00000531336.1:n.559C=
ENST00000533123.5:c.*298C=	ENSP00000435950.1:n.*298C=
ENST00000534405.5:c.*402C=	ENSP00000434353.1:n.*402C=
NM_000543.4:c.1571C=	NP_000534.3:p.Thr524=
NM_001007593.2:c.1568C=	NP_001007594.2:p.Thr523=
XM_005253075.3:c.*64C=	XP_005253132.1:n.*64C=
XM_011520303.1:c.1439C=	XP_011518605.1:p.Thr480=
XM_011520304.1:c.*64C=	XP_011518606.1:n.*64C=
NM_001318087.1:c.*64C=	NP_001305016.1:n.*64C=
NM_001318088.1:c.650C=	NP_001305017.1:p.Thr217=
NM_001365135.1:c.1439C=	NP_001352064.1:p.Thr480=
NR_027400.2:n.1584C=
NR_134502.1:n.1123C=
XM_011520304.2:c.*64C=	XP_011518606.1:n.*64C=
XR_001747940.2:n.1756C=
XR_002957158.1:n.1938C=
NM_000543.5:c.1571C= MANE Select	NP_000534.3:p.Thr524=
NM_001007593.3:c.1568C=	NP_001007594.2:p.Thr523=
NM_001318087.2:c.*64C=	NP_001305016.1:n.*64C=
NM_001318088.2:c.650C=	NP_001305017.1:p.Thr217=
NM_001365135.2:c.1439C=	NP_001352064.1:p.Thr480=
NR_027400.3:n.1524C=
NR_134502.2:n.1063C=