Canonical Allele Identifier: CA2499221122

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1173981
• ClinVar RCV Id: RCV001527436
• dbSNP Id: rs2134017306

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393275del , CM000673.2:g.6393275del	GRCh38
NC_000011.9:g.6414505del , CM000673.1:g.6414505del	GRCh37
NC_000011.8:g.6371081del	NCBI36
NG_011780.1:g.7851del
NG_029615.1:g.31140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1151del MANE Select	ENSP00000340409.4:p.Met384ArgfsTer12
ENST00000342245.8:c.1151del	ENSP00000340409.4:p.Met384ArgfsTer12
ENST00000526280.1:c.321-342del
ENST00000527275.5:c.1148del	ENSP00000435350.1:p.Met383ArgfsTer12
ENST00000531303.5:c.498del	ENSP00000432625.1:p.Tyr166Ter
ENST00000533123.5:c.1092-342del	ENSP00000435950.1:n.1092-342del
ENST00000534405.5:c.1191del	ENSP00000434353.1:p.Tyr397Ter
NM_000543.4:c.1151del	NP_000534.3:p.Met384ArgfsTer12
NM_001007593.2:c.1148del	NP_001007594.2:p.Met383ArgfsTer12
XM_005253075.3:c.1151del	XP_005253132.1:p.Met384ArgfsTer12
XM_011520303.1:c.1132-342del	XP_011518605.1:n.1132-342del
XM_011520304.1:c.1132-342del	XP_011518606.1:n.1132-342del
XR_930886.1:n.1489del
NM_001318087.1:c.1151del	NP_001305016.1:p.Met384ArgfsTer12
NM_001318088.1:c.230del	NP_001305017.1:p.Met77ArgfsTer12
NM_001365135.1:c.1132-342del	NP_001352064.1:n.1132-342del
NR_027400.2:n.1277-342del
NR_134502.1:n.683del
XM_011520304.2:c.1132-342del	XP_011518606.1:n.1132-342del
XR_001747940.2:n.1316del
XR_002957158.1:n.1316del
NM_000543.5:c.1151del MANE Select	NP_000534.3:p.Met384ArgfsTer12
NM_001007593.3:c.1148del	NP_001007594.2:p.Met383ArgfsTer12
NM_001318087.2:c.1151del	NP_001305016.1:p.Met384ArgfsTer12
NM_001318088.2:c.230del	NP_001305017.1:p.Met77ArgfsTer12
NM_001365135.2:c.1132-342del	NP_001352064.1:n.1132-342del
NR_027400.3:n.1217-342del
NR_134502.2:n.623del