Canonical Allele Identifier: CA1950148926

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393939G= , CM000673.2:g.6393939G=	GRCh38
NC_000011.9:g.6415169G= , CM000673.1:g.6415169G=	GRCh37
NC_000011.8:g.6371745G=	NCBI36
NG_011780.1:g.8515G=
NG_029615.1:g.30476C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1384G= MANE Select	ENSP00000340409.4:p.Val462=
ENST00000342245.8:c.1384G=	ENSP00000340409.4:p.Val462=
ENST00000526280.1:c.441G=
ENST00000527275.5:c.1381G=	ENSP00000435350.1:p.Val461=
ENST00000531303.5:c.*215G=	ENSP00000432625.1:n.*215G=
ENST00000531336.1:n.216G=
ENST00000532367.1:n.220G=
ENST00000533123.5:c.*111G=	ENSP00000435950.1:n.*111G=
ENST00000534405.5:c.*215G=	ENSP00000434353.1:n.*215G=
NM_000543.4:c.1384G=	NP_000534.3:p.Val462=
NM_001007593.2:c.1381G=	NP_001007594.2:p.Val461=
XM_005253075.3:c.1384G=	XP_005253132.1:p.Val462=
XM_011520303.1:c.1252G=	XP_011518605.1:p.Val418=
XM_011520304.1:c.1252G=	XP_011518606.1:p.Val418=
XR_930886.1:n.1722G=
NM_001318087.1:c.1384G=	NP_001305016.1:p.Val462=
NM_001318088.1:c.463G=	NP_001305017.1:p.Val155=
NM_001365135.1:c.1252G=	NP_001352064.1:p.Val418=
NR_027400.2:n.1397G=
NR_134502.1:n.916G=
XM_011520304.2:c.1252G=	XP_011518606.1:p.Val418=
XR_001747940.2:n.1549G=
XR_002957158.1:n.1751G=
NM_000543.5:c.1384G= MANE Select	NP_000534.3:p.Val462=
NM_001007593.3:c.1381G=	NP_001007594.2:p.Val461=
NM_001318087.2:c.1384G=	NP_001305016.1:p.Val462=
NM_001318088.2:c.463G=	NP_001305017.1:p.Val155=
NM_001365135.2:c.1252G=	NP_001352064.1:p.Val418=
NR_027400.3:n.1337G=
NR_134502.2:n.856G=