Canonical Allele Identifier: CA1950149586

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2037927
• ClinVar RCV Id: RCV002890334
• dbSNP Id: rs1848086912

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394300del , CM000673.2:g.6394300del	GRCh38
NC_000011.9:g.6415530del , CM000673.1:g.6415530del	GRCh37
NC_000011.8:g.6372106del	NCBI36
NG_011780.1:g.8876del
NG_029615.1:g.30117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1589del MANE Select	ENSP00000340409.4:p.Gly530GlufsTer?
ENST00000342245.8:c.1589del	ENSP00000340409.4:p.Gly530GlufsTer?
ENST00000526280.1:c.646del
ENST00000527275.5:c.1586del	ENSP00000435350.1:p.Gly529GlufsTer?
ENST00000531303.5:c.*440del	ENSP00000432625.1:n.*440del
ENST00000531336.1:n.577del
ENST00000533123.5:c.*316del	ENSP00000435950.1:n.*316del
ENST00000534405.5:c.*420del	ENSP00000434353.1:n.*420del
NM_000543.4:c.1589del	NP_000534.3:p.Gly530GlufsTer?
NM_001007593.2:c.1586del	NP_001007594.2:p.Gly529GlufsTer?
XM_005253075.3:c.*82del	XP_005253132.1:n.*82del
XM_011520303.1:c.1457del	XP_011518605.1:p.Gly486GlufsTer?
XM_011520304.1:c.*82del	XP_011518606.1:n.*82del
NM_001318087.1:c.*82del	NP_001305016.1:n.*82del
NM_001318088.1:c.668del	NP_001305017.1:p.Gly223GlufsTer?
NM_001365135.1:c.1457del	NP_001352064.1:p.Gly486GlufsTer?
NR_027400.2:n.1602del
NR_134502.1:n.1141del
XM_011520304.2:c.*82del	XP_011518606.1:n.*82del
XR_001747940.2:n.1774del
XR_002957158.1:n.1956del
NM_000543.5:c.1589del MANE Select	NP_000534.3:p.Gly530GlufsTer?
NM_001007593.3:c.1586del	NP_001007594.2:p.Gly529GlufsTer?
NM_001318087.2:c.*82del	NP_001305016.1:n.*82del
NM_001318088.2:c.668del	NP_001305017.1:p.Gly223GlufsTer?
NM_001365135.2:c.1457del	NP_001352064.1:p.Gly486GlufsTer?
NR_027400.3:n.1542del
NR_134502.2:n.1081del