Canonical Allele Identifier: CA1950149875

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394420A= , CM000673.2:g.6394420A=	GRCh38
NC_000011.9:g.6415650A= , CM000673.1:g.6415650A=	GRCh37
NC_000011.8:g.6372226A=	NCBI36
NG_011780.1:g.8996A=
NG_029615.1:g.29995T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1709A= MANE Select	ENSP00000340409.4:p.Gln570=
ENST00000342245.8:c.1709A=	ENSP00000340409.4:p.Gln570=
ENST00000526280.1:c.766A=
ENST00000527275.5:c.1706A=	ENSP00000435350.1:p.Gln569=
ENST00000531303.5:c.*560A=	ENSP00000432625.1:n.*560A=
ENST00000533123.5:c.*436A=	ENSP00000435950.1:n.*436A=
ENST00000534405.5:c.*540A=	ENSP00000434353.1:n.*540A=
NM_000543.4:c.1709A=	NP_000534.3:p.Gln570=
NM_001007593.2:c.1706A=	NP_001007594.2:p.Gln569=
XM_005253075.3:c.*202A=	XP_005253132.1:n.*202A=
XM_011520303.1:c.1577A=	XP_011518605.1:p.Gln526=
XM_011520304.1:c.*202A=	XP_011518606.1:n.*202A=
NM_001318087.1:c.*202A=	NP_001305016.1:n.*202A=
NM_001318088.1:c.788A=	NP_001305017.1:p.Gln263=
NM_001365135.1:c.1577A=	NP_001352064.1:p.Gln526=
NR_027400.2:n.1722A=
NR_134502.1:n.1261A=
XM_011520304.2:c.*202A=	XP_011518606.1:n.*202A=
XR_001747940.2:n.1894A=
XR_002957158.1:n.2076A=
NM_000543.5:c.1709A= MANE Select	NP_000534.3:p.Gln570=
NM_001007593.3:c.1706A=	NP_001007594.2:p.Gln569=
NM_001318087.2:c.*202A=	NP_001305016.1:n.*202A=
NM_001318088.2:c.788A=	NP_001305017.1:p.Gln263=
NM_001365135.2:c.1577A=	NP_001352064.1:p.Gln526=
NR_027400.3:n.1662A=
NR_134502.2:n.1201A=