Canonical Allele Identifier: CA1950149375

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394223A= , CM000673.2:g.6394223A=	GRCh38
NC_000011.9:g.6415453A= , CM000673.1:g.6415453A=	GRCh37
NC_000011.8:g.6372029A=	NCBI36
NG_011780.1:g.8799A=
NG_029615.1:g.30192T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1512A= MANE Select	ENSP00000340409.4:p.Gly504=
ENST00000342245.8:c.1512A=	ENSP00000340409.4:p.Gly504=
ENST00000526280.1:c.569A=
ENST00000527275.5:c.1509A=	ENSP00000435350.1:p.Gly503=
ENST00000531303.5:c.*363A=	ENSP00000432625.1:n.*363A=
ENST00000531336.1:n.500A=
ENST00000533123.5:c.*239A=	ENSP00000435950.1:n.*239A=
ENST00000534405.5:c.*343A=	ENSP00000434353.1:n.*343A=
NM_000543.4:c.1512A=	NP_000534.3:p.Gly504=
NM_001007593.2:c.1509A=	NP_001007594.2:p.Gly503=
XM_005253075.3:c.*5A=	XP_005253132.1:n.*5A=
XM_011520303.1:c.1380A=	XP_011518605.1:p.Gly460=
XM_011520304.1:c.*5A=	XP_011518606.1:n.*5A=
NM_001318087.1:c.*5A=	NP_001305016.1:n.*5A=
NM_001318088.1:c.591A=	NP_001305017.1:p.Gly197=
NM_001365135.1:c.1380A=	NP_001352064.1:p.Gly460=
NR_027400.2:n.1525A=
NR_134502.1:n.1064A=
XM_011520304.2:c.*5A=	XP_011518606.1:n.*5A=
XR_001747940.2:n.1697A=
XR_002957158.1:n.1879A=
NM_000543.5:c.1512A= MANE Select	NP_000534.3:p.Gly504=
NM_001007593.3:c.1509A=	NP_001007594.2:p.Gly503=
NM_001318087.2:c.*5A=	NP_001305016.1:n.*5A=
NM_001318088.2:c.591A=	NP_001305017.1:p.Gly197=
NM_001365135.2:c.1380A=	NP_001352064.1:p.Gly460=
NR_027400.3:n.1465A=
NR_134502.2:n.1004A=