Canonical Allele Identifier: CA2499221114

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1073151
• ClinVar RCV Id: RCV001386058 ; RCV003473962
• dbSNP Id: rs2134006179
• gnomAD v4: 11-6390771-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390773del , CM000673.2:g.6390773del	GRCh38
NC_000011.9:g.6412003del , CM000673.1:g.6412003del	GRCh37
NC_000011.8:g.6368579del	NCBI36
NG_011780.1:g.5349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.175del MANE Select	ENSP00000340409.4:p.Ala59GlnfsTer18
ENST00000342245.8:c.175del	ENSP00000340409.4:p.Ala59GlnfsTer18
ENST00000527275.5:c.175del	ENSP00000435350.1:p.Ala59GlnfsTer18
ENST00000530395.1:c.-96+134del	ENSP00000431479.1:n.-96+134del
ENST00000531303.5:c.175del	ENSP00000432625.1:p.Ala59GlnfsTer18
ENST00000533123.5:c.175del	ENSP00000435950.1:p.Ala59GlnfsTer18
ENST00000533196.1:n.334del
ENST00000534405.5:c.175del	ENSP00000434353.1:p.Ala59GlnfsTer18
NM_000543.4:c.175del	NP_000534.3:p.Ala59GlnfsTer18
NM_001007593.2:c.175del	NP_001007594.2:p.Ala59GlnfsTer18
XM_005253075.3:c.175del	XP_005253132.1:p.Ala59GlnfsTer18
XM_011520303.1:c.175del	XP_011518605.1:p.Ala59GlnfsTer18
XM_011520304.1:c.175del	XP_011518606.1:p.Ala59GlnfsTer18
XR_930886.1:n.473del
NM_001318087.1:c.175del	NP_001305016.1:p.Ala59GlnfsTer18
NM_001318088.1:c.-787del	NP_001305017.1:n.-787del
NM_001365135.1:c.175del	NP_001352064.1:p.Ala59GlnfsTer18
NR_027400.2:n.360del
NR_134502.1:n.360del
XM_011520304.2:c.175del	XP_011518606.1:p.Ala59GlnfsTer18
XR_001747940.2:n.300del
XR_002957158.1:n.300del
NM_000543.5:c.175del MANE Select	NP_000534.3:p.Ala59GlnfsTer18
NM_001007593.3:c.175del	NP_001007594.2:p.Ala59GlnfsTer18
NM_001318087.2:c.175del	NP_001305016.1:p.Ala59GlnfsTer18
NM_001318088.2:c.-787del	NP_001305017.1:n.-787del
NM_001365135.2:c.175del	NP_001352064.1:p.Ala59GlnfsTer18
NR_027400.3:n.300del
NR_134502.2:n.300del