Canonical Allele Identifier: CA1950150118

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394540G= , CM000673.2:g.6394540G=	GRCh38
NC_000011.9:g.6415770G= , CM000673.1:g.6415770G=	GRCh37
NC_000011.8:g.6372346G=	NCBI36
NG_011780.1:g.9116G=
NG_029615.1:g.29875C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1829G= MANE Select	ENSP00000340409.4:p.Arg610=
ENST00000342245.8:c.1829G=	ENSP00000340409.4:p.Arg610=
ENST00000526280.1:c.886G=
ENST00000527275.5:c.1826G=	ENSP00000435350.1:p.Arg609=
ENST00000531303.5:c.*680G=	ENSP00000432625.1:n.*680G=
ENST00000533123.5:c.*556G=	ENSP00000435950.1:n.*556G=
ENST00000534405.5:c.*660G=	ENSP00000434353.1:n.*660G=
NM_000543.4:c.1829G=	NP_000534.3:p.Arg610=
NM_001007593.2:c.1826G=	NP_001007594.2:p.Arg609=
XM_005253075.3:c.*322G=	XP_005253132.1:n.*322G=
XM_011520303.1:c.1697G=	XP_011518605.1:p.Arg566=
XM_011520304.1:c.*322G=	XP_011518606.1:n.*322G=
NM_001318087.1:c.*322G=	NP_001305016.1:n.*322G=
NM_001318088.1:c.908G=	NP_001305017.1:p.Arg303=
NM_001365135.1:c.1697G=	NP_001352064.1:p.Arg566=
NR_027400.2:n.1842G=
NR_134502.1:n.1381G=
XM_011520304.2:c.*322G=	XP_011518606.1:n.*322G=
XR_001747940.2:n.2014G=
XR_002957158.1:n.2196G=
NM_000543.5:c.1829G= MANE Select	NP_000534.3:p.Arg610=
NM_001007593.3:c.1826G=	NP_001007594.2:p.Arg609=
NM_001318087.2:c.*322G=	NP_001305016.1:n.*322G=
NM_001318088.2:c.908G=	NP_001305017.1:p.Arg303=
NM_001365135.2:c.1697G=	NP_001352064.1:p.Arg566=
NR_027400.3:n.1782G=
NR_134502.2:n.1321G=