Canonical Allele Identifier: CA1950149456

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394245G= , CM000673.2:g.6394245G=	GRCh38
NC_000011.9:g.6415475G= , CM000673.1:g.6415475G=	GRCh37
NC_000011.8:g.6372051G=	NCBI36
NG_011780.1:g.8821G=
NG_029615.1:g.30170C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1534G= MANE Select	ENSP00000340409.4:p.Val512=
ENST00000342245.8:c.1534G=	ENSP00000340409.4:p.Val512=
ENST00000526280.1:c.591G=
ENST00000527275.5:c.1531G=	ENSP00000435350.1:p.Val511=
ENST00000531303.5:c.*385G=	ENSP00000432625.1:n.*385G=
ENST00000531336.1:n.522G=
ENST00000533123.5:c.*261G=	ENSP00000435950.1:n.*261G=
ENST00000534405.5:c.*365G=	ENSP00000434353.1:n.*365G=
NM_000543.4:c.1534G=	NP_000534.3:p.Val512=
NM_001007593.2:c.1531G=	NP_001007594.2:p.Val511=
XM_005253075.3:c.*27G=	XP_005253132.1:n.*27G=
XM_011520303.1:c.1402G=	XP_011518605.1:p.Val468=
XM_011520304.1:c.*27G=	XP_011518606.1:n.*27G=
NM_001318087.1:c.*27G=	NP_001305016.1:n.*27G=
NM_001318088.1:c.613G=	NP_001305017.1:p.Val205=
NM_001365135.1:c.1402G=	NP_001352064.1:p.Val468=
NR_027400.2:n.1547G=
NR_134502.1:n.1086G=
XM_011520304.2:c.*27G=	XP_011518606.1:n.*27G=
XR_001747940.2:n.1719G=
XR_002957158.1:n.1901G=
NM_000543.5:c.1534G= MANE Select	NP_000534.3:p.Val512=
NM_001007593.3:c.1531G=	NP_001007594.2:p.Val511=
NM_001318087.2:c.*27G=	NP_001305016.1:n.*27G=
NM_001318088.2:c.613G=	NP_001305017.1:p.Val205=
NM_001365135.2:c.1402G=	NP_001352064.1:p.Val468=
NR_027400.3:n.1487G=
NR_134502.2:n.1026G=