Canonical Allele Identifier: CA1950148558

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393690C= , CM000673.2:g.6393690C=	GRCh38
NC_000011.9:g.6414920C= , CM000673.1:g.6414920C=	GRCh37
NC_000011.8:g.6371496C=	NCBI36
NG_011780.1:g.8266C=
NG_029615.1:g.30725G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1337C= MANE Select	ENSP00000340409.4:p.Ala446=
ENST00000342245.8:c.1337C=	ENSP00000340409.4:p.Ala446=
ENST00000526280.1:c.394C=
ENST00000527275.5:c.1334C=	ENSP00000435350.1:p.Ala445=
ENST00000531303.5:c.*168C=	ENSP00000432625.1:n.*168C=
ENST00000531336.1:n.169C=
ENST00000532367.1:n.173C=
ENST00000533123.5:c.*64C=	ENSP00000435950.1:n.*64C=
ENST00000534405.5:c.*168C=	ENSP00000434353.1:n.*168C=
NM_000543.4:c.1337C=	NP_000534.3:p.Ala446=
NM_001007593.2:c.1334C=	NP_001007594.2:p.Ala445=
XM_005253075.3:c.1337C=	XP_005253132.1:p.Ala446=
XM_011520303.1:c.1205C=	XP_011518605.1:p.Ala402=
XM_011520304.1:c.1205C=	XP_011518606.1:p.Ala402=
XR_930886.1:n.1675C=
NM_001318087.1:c.1337C=	NP_001305016.1:p.Ala446=
NM_001318088.1:c.416C=	NP_001305017.1:p.Ala139=
NM_001365135.1:c.1205C=	NP_001352064.1:p.Ala402=
NR_027400.2:n.1350C=
NR_134502.1:n.869C=
XM_011520304.2:c.1205C=	XP_011518606.1:p.Ala402=
XR_001747940.2:n.1502C=
XR_002957158.1:n.1502C=
NM_000543.5:c.1337C= MANE Select	NP_000534.3:p.Ala446=
NM_001007593.3:c.1334C=	NP_001007594.2:p.Ala445=
NM_001318087.2:c.1337C=	NP_001305016.1:p.Ala446=
NM_001318088.2:c.416C=	NP_001305017.1:p.Ala139=
NM_001365135.2:c.1205C=	NP_001352064.1:p.Ala402=
NR_027400.3:n.1290C=
NR_134502.2:n.809C=