Canonical Allele Identifier: CA1950148702

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393808A= , CM000673.2:g.6393808A=	GRCh38
NC_000011.9:g.6415038A= , CM000673.1:g.6415038A=	GRCh37
NC_000011.8:g.6371614A=	NCBI36
NG_011780.1:g.8384A=
NG_029615.1:g.30607T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1341-88A= MANE Select	ENSP00000340409.4:n.1341-88A=
ENST00000342245.8:c.1341-88A=	ENSP00000340409.4:n.1341-88A=
ENST00000526280.1:c.398-88A=
ENST00000527275.5:c.1338-88A=	ENSP00000435350.1:n.1338-88A=
ENST00000531303.5:c.*172-88A=	ENSP00000432625.1:n.*172-88A=
ENST00000531336.1:n.173-88A=
ENST00000532367.1:n.177-88A=
ENST00000533123.5:c.*68-88A=	ENSP00000435950.1:n.*68-88A=
ENST00000534405.5:c.*172-88A=	ENSP00000434353.1:n.*172-88A=
NM_000543.4:c.1341-88A=	NP_000534.3:n.1341-88A=
NM_001007593.2:c.1338-88A=	NP_001007594.2:n.1338-88A=
XM_005253075.3:c.1341-88A=	XP_005253132.1:n.1341-88A=
XM_011520303.1:c.1209-88A=	XP_011518605.1:n.1209-88A=
XM_011520304.1:c.1209-88A=	XP_011518606.1:n.1209-88A=
XR_930886.1:n.1679-88A=
NM_001318087.1:c.1341-88A=	NP_001305016.1:n.1341-88A=
NM_001318088.1:c.420-88A=	NP_001305017.1:n.420-88A=
NM_001365135.1:c.1209-88A=	NP_001352064.1:n.1209-88A=
NR_027400.2:n.1354-88A=
NR_134502.1:n.873-88A=
XM_011520304.2:c.1209-88A=	XP_011518606.1:n.1209-88A=
XR_001747940.2:n.1506-88A=
XR_002957158.1:n.1620A=
NM_000543.5:c.1341-88A= MANE Select	NP_000534.3:n.1341-88A=
NM_001007593.3:c.1338-88A=	NP_001007594.2:n.1338-88A=
NM_001318087.2:c.1341-88A=	NP_001305016.1:n.1341-88A=
NM_001318088.2:c.420-88A=	NP_001305017.1:n.420-88A=
NM_001365135.2:c.1209-88A=	NP_001352064.1:n.1209-88A=
NR_027400.3:n.1294-88A=
NR_134502.2:n.813-88A=