Canonical Allele Identifier: CA2580083945

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2070241
• ClinVar RCV Id: RCV002966984

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393657dup , CM000673.2:g.6393657dup	GRCh38
NC_000011.9:g.6414887dup , CM000673.1:g.6414887dup	GRCh37
NC_000011.8:g.6371463dup	NCBI36
NG_011780.1:g.8233dup
NG_029615.1:g.30759dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1304dup MANE Select	ENSP00000340409.4:p.Ser436GlufsTer14
ENST00000342245.8:c.1304dup	ENSP00000340409.4:p.Ser436GlufsTer14
ENST00000526280.1:c.361dup
ENST00000527275.5:c.1301dup	ENSP00000435350.1:p.Ser435GlufsTer14
ENST00000531303.5:c.*135dup	ENSP00000432625.1:n.*135dup
ENST00000531336.1:n.136dup
ENST00000532367.1:n.140dup
ENST00000533123.5:c.*31dup	ENSP00000435950.1:n.*31dup
ENST00000534405.5:c.*135dup	ENSP00000434353.1:n.*135dup
NM_000543.4:c.1304dup	NP_000534.3:p.Ser436GlufsTer14
NM_001007593.2:c.1301dup	NP_001007594.2:p.Ser435GlufsTer14
XM_005253075.3:c.1304dup	XP_005253132.1:p.Ser436GlufsTer14
XM_011520303.1:c.1172dup	XP_011518605.1:p.Ser392GlufsTer14
XM_011520304.1:c.1172dup	XP_011518606.1:p.Ser392GlufsTer14
XR_930886.1:n.1642dup
NM_001318087.1:c.1304dup	NP_001305016.1:p.Ser436GlufsTer14
NM_001318088.1:c.383dup	NP_001305017.1:p.Ser129GlufsTer14
NM_001365135.1:c.1172dup	NP_001352064.1:p.Ser392GlufsTer14
NR_027400.2:n.1317dup
NR_134502.1:n.836dup
XM_011520304.2:c.1172dup	XP_011518606.1:p.Ser392GlufsTer14
XR_001747940.2:n.1469dup
XR_002957158.1:n.1469dup
NM_000543.5:c.1304dup MANE Select	NP_000534.3:p.Ser436GlufsTer14
NM_001007593.3:c.1301dup	NP_001007594.2:p.Ser435GlufsTer14
NM_001318087.2:c.1304dup	NP_001305016.1:p.Ser436GlufsTer14
NM_001318088.2:c.383dup	NP_001305017.1:p.Ser129GlufsTer14
NM_001365135.2:c.1172dup	NP_001352064.1:p.Ser392GlufsTer14
NR_027400.3:n.1257dup
NR_134502.2:n.776dup