Canonical Allele Identifier: CA1950147930

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393284G= , CM000673.2:g.6393284G=	GRCh38
NC_000011.9:g.6414514G= , CM000673.1:g.6414514G=	GRCh37
NC_000011.8:g.6371090G=	NCBI36
NG_011780.1:g.7860G=
NG_029615.1:g.31131C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1160G= MANE Select	ENSP00000340409.4:p.Cys387=
ENST00000342245.8:c.1160G=	ENSP00000340409.4:p.Cys387=
ENST00000526280.1:c.321-333G=
ENST00000527275.5:c.1157G=	ENSP00000435350.1:p.Cys386=
ENST00000531303.5:c.507G=	ENSP00000432625.1:p.Leu169=
ENST00000533123.5:c.1092-333G=	ENSP00000435950.1:n.1092-333G=
ENST00000534405.5:c.1200G=	ENSP00000434353.1:p.Leu400=
NM_000543.4:c.1160G=	NP_000534.3:p.Cys387=
NM_001007593.2:c.1157G=	NP_001007594.2:p.Cys386=
XM_005253075.3:c.1160G=	XP_005253132.1:p.Cys387=
XM_011520303.1:c.1132-333G=	XP_011518605.1:n.1132-333G=
XM_011520304.1:c.1132-333G=	XP_011518606.1:n.1132-333G=
XR_930886.1:n.1498G=
NM_001318087.1:c.1160G=	NP_001305016.1:p.Cys387=
NM_001318088.1:c.239G=	NP_001305017.1:p.Cys80=
NM_001365135.1:c.1132-333G=	NP_001352064.1:n.1132-333G=
NR_027400.2:n.1277-333G=
NR_134502.1:n.692G=
XM_011520304.2:c.1132-333G=	XP_011518606.1:n.1132-333G=
XR_001747940.2:n.1325G=
XR_002957158.1:n.1325G=
NM_000543.5:c.1160G= MANE Select	NP_000534.3:p.Cys387=
NM_001007593.3:c.1157G=	NP_001007594.2:p.Cys386=
NM_001318087.2:c.1160G=	NP_001305016.1:p.Cys387=
NM_001318088.2:c.239G=	NP_001305017.1:p.Cys80=
NM_001365135.2:c.1132-333G=	NP_001352064.1:n.1132-333G=
NR_027400.3:n.1217-333G=
NR_134502.2:n.632G=