Canonical Allele Identifier: CA915947964

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 640937
• ClinVar RCV Id: RCV000794074
• dbSNP Id: rs1590743683

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393232dup , CM000673.2:g.6393232dup	GRCh38
NC_000011.9:g.6414462dup , CM000673.1:g.6414462dup	GRCh37
NC_000011.8:g.6371038dup	NCBI36
NG_011780.1:g.7808dup
NG_029615.1:g.31183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1108dup MANE Select	ENSP00000340409.4:p.Ala370GlyfsTer21
ENST00000342245.8:c.1108dup	ENSP00000340409.4:p.Ala370GlyfsTer21
ENST00000526280.1:c.321-385dup
ENST00000527275.5:c.1105dup	ENSP00000435350.1:p.Ala369GlyfsTer21
ENST00000531303.5:c.455dup	ENSP00000432625.1:p.Cys152TrpfsTer16
ENST00000533123.5:c.1092-385dup	ENSP00000435950.1:n.1092-385dup
ENST00000534405.5:c.1148dup	ENSP00000434353.1:p.Cys383TrpfsTer16
NM_000543.4:c.1108dup	NP_000534.3:p.Ala370GlyfsTer21
NM_001007593.2:c.1105dup	NP_001007594.2:p.Ala369GlyfsTer21
XM_005253075.3:c.1108dup	XP_005253132.1:p.Ala370GlyfsTer21
XM_011520303.1:c.1132-385dup	XP_011518605.1:n.1132-385dup
XM_011520304.1:c.1132-385dup	XP_011518606.1:n.1132-385dup
XR_930886.1:n.1446dup
NM_001318087.1:c.1108dup	NP_001305016.1:p.Ala370GlyfsTer21
NM_001318088.1:c.187dup	NP_001305017.1:p.Ala63GlyfsTer21
NM_001365135.1:c.1132-385dup	NP_001352064.1:n.1132-385dup
NR_027400.2:n.1277-385dup
NR_134502.1:n.640dup
XM_011520304.2:c.1132-385dup	XP_011518606.1:n.1132-385dup
XR_001747940.2:n.1273dup
XR_002957158.1:n.1273dup
NM_000543.5:c.1108dup MANE Select	NP_000534.3:p.Ala370GlyfsTer21
NM_001007593.3:c.1105dup	NP_001007594.2:p.Ala369GlyfsTer21
NM_001318087.2:c.1108dup	NP_001305016.1:p.Ala370GlyfsTer21
NM_001318088.2:c.187dup	NP_001305017.1:p.Ala63GlyfsTer21
NM_001365135.2:c.1132-385dup	NP_001352064.1:n.1132-385dup
NR_027400.3:n.1217-385dup
NR_134502.2:n.580dup