Canonical Allele Identifier: CA1950147987

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393315C= , CM000673.2:g.6393315C=	GRCh38
NC_000011.9:g.6414545C= , CM000673.1:g.6414545C=	GRCh37
NC_000011.8:g.6371121C=	NCBI36
NG_011780.1:g.7891C=
NG_029615.1:g.31100G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1191C= MANE Select	ENSP00000340409.4:p.Asn397=
ENST00000342245.8:c.1191C=	ENSP00000340409.4:p.Asn397=
ENST00000526280.1:c.321-302C=
ENST00000527275.5:c.1188C=	ENSP00000435350.1:p.Asn396=
ENST00000531303.5:c.*22C=	ENSP00000432625.1:n.*22C=
ENST00000531336.1:n.23C=
ENST00000533123.5:c.1092-302C=	ENSP00000435950.1:n.1092-302C=
ENST00000534405.5:c.*22C=	ENSP00000434353.1:n.*22C=
NM_000543.4:c.1191C=	NP_000534.3:p.Asn397=
NM_001007593.2:c.1188C=	NP_001007594.2:p.Asn396=
XM_005253075.3:c.1191C=	XP_005253132.1:p.Asn397=
XM_011520303.1:c.1132-302C=	XP_011518605.1:n.1132-302C=
XM_011520304.1:c.1132-302C=	XP_011518606.1:n.1132-302C=
XR_930886.1:n.1529C=
NM_001318087.1:c.1191C=	NP_001305016.1:p.Asn397=
NM_001318088.1:c.270C=	NP_001305017.1:p.Asn90=
NM_001365135.1:c.1132-302C=	NP_001352064.1:n.1132-302C=
NR_027400.2:n.1277-302C=
NR_134502.1:n.723C=
XM_011520304.2:c.1132-302C=	XP_011518606.1:n.1132-302C=
XR_001747940.2:n.1356C=
XR_002957158.1:n.1356C=
NM_000543.5:c.1191C= MANE Select	NP_000534.3:p.Asn397=
NM_001007593.3:c.1188C=	NP_001007594.2:p.Asn396=
NM_001318087.2:c.1191C=	NP_001305016.1:p.Asn397=
NM_001318088.2:c.270C=	NP_001305017.1:p.Asn90=
NM_001365135.2:c.1132-302C=	NP_001352064.1:n.1132-302C=
NR_027400.3:n.1217-302C=
NR_134502.2:n.663C=