Canonical Allele Identifier: CA913190235

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 594223
• ClinVar RCV Id: RCV000729460
• dbSNP Id: rs1564927308

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394244del , CM000673.2:g.6394244del	GRCh38
NC_000011.9:g.6415474del , CM000673.1:g.6415474del	GRCh37
NC_000011.8:g.6372050del	NCBI36
NG_011780.1:g.8820del
NG_029615.1:g.30171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1533del MANE Select	ENSP00000340409.4:p.His511GlnfsTer11
ENST00000342245.8:c.1533del	ENSP00000340409.4:p.His511GlnfsTer11
ENST00000526280.1:c.590del
ENST00000527275.5:c.1530del	ENSP00000435350.1:p.His510GlnfsTer11
ENST00000531303.5:c.*384del	ENSP00000432625.1:n.*384del
ENST00000531336.1:n.521del
ENST00000533123.5:c.*260del	ENSP00000435950.1:n.*260del
ENST00000534405.5:c.*364del	ENSP00000434353.1:n.*364del
NM_000543.4:c.1533del	NP_000534.3:p.His511GlnfsTer11
NM_001007593.2:c.1530del	NP_001007594.2:p.His510GlnfsTer11
XM_005253075.3:c.*26del	XP_005253132.1:n.*26del
XM_011520303.1:c.1401del	XP_011518605.1:p.His467GlnfsTer11
XM_011520304.1:c.*26del	XP_011518606.1:n.*26del
NM_001318087.1:c.*26del	NP_001305016.1:n.*26del
NM_001318088.1:c.612del	NP_001305017.1:p.His204GlnfsTer11
NM_001365135.1:c.1401del	NP_001352064.1:p.His467GlnfsTer11
NR_027400.2:n.1546del
NR_134502.1:n.1085del
XM_011520304.2:c.*26del	XP_011518606.1:n.*26del
XR_001747940.2:n.1718del
XR_002957158.1:n.1900del
NM_000543.5:c.1533del MANE Select	NP_000534.3:p.His511GlnfsTer11
NM_001007593.3:c.1530del	NP_001007594.2:p.His510GlnfsTer11
NM_001318087.2:c.*26del	NP_001305016.1:n.*26del
NM_001318088.2:c.612del	NP_001305017.1:p.His204GlnfsTer11
NM_001365135.2:c.1401del	NP_001352064.1:p.His467GlnfsTer11
NR_027400.3:n.1486del
NR_134502.2:n.1025del