Canonical Allele Identifier: CA217299051

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1458477
• ClinVar RCV Id: RCV001956392 ; RCV002250791
• dbSNP Id: rs281860676

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390746_6390749del , CM000673.2:g.6390746_6390749del	GRCh38
NC_000011.9:g.6411976_6411979del , CM000673.1:g.6411976_6411979del	GRCh37
NC_000011.8:g.6368552_6368555del	NCBI36
NG_011780.1:g.5322_5325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.148_151del MANE Select	ENSP00000340409.4:p.Ser50ThrfsTer26
ENST00000342245.8:c.148_151del	ENSP00000340409.4:p.Ser50ThrfsTer26
ENST00000527275.5:c.148_151del	ENSP00000435350.1:p.Ser50ThrfsTer26
ENST00000530395.1:c.-96+107_-96+110del	ENSP00000431479.1:n.-96+107_-96+110del
ENST00000531303.5:c.148_151del	ENSP00000432625.1:p.Ser50ThrfsTer26
ENST00000533123.5:c.148_151del	ENSP00000435950.1:p.Ser50ThrfsTer26
ENST00000533196.1:n.307_310del
ENST00000534405.5:c.148_151del	ENSP00000434353.1:p.Ser50ThrfsTer26
NM_000543.4:c.148_151del	NP_000534.3:p.Ser50ThrfsTer26
NM_001007593.2:c.148_151del	NP_001007594.2:p.Ser50ThrfsTer26
XM_005253075.3:c.148_151del	XP_005253132.1:p.Ser50ThrfsTer26
XM_011520303.1:c.148_151del	XP_011518605.1:p.Ser50ThrfsTer26
XM_011520304.1:c.148_151del	XP_011518606.1:p.Ser50ThrfsTer26
XR_930886.1:n.446_449del
NM_001318087.1:c.148_151del	NP_001305016.1:p.Ser50ThrfsTer26
NM_001318088.1:c.-814_-811del	NP_001305017.1:n.-814_-811del
NM_001365135.1:c.148_151del	NP_001352064.1:p.Ser50ThrfsTer26
NR_027400.2:n.333_336del
NR_134502.1:n.333_336del
XM_011520304.2:c.148_151del	XP_011518606.1:p.Ser50ThrfsTer26
XR_001747940.2:n.273_276del
XR_002957158.1:n.273_276del
NM_000543.5:c.148_151del MANE Select	NP_000534.3:p.Ser50ThrfsTer26
NM_001007593.3:c.148_151del	NP_001007594.2:p.Ser50ThrfsTer26
NM_001318087.2:c.148_151del	NP_001305016.1:p.Ser50ThrfsTer26
NM_001318088.2:c.-814_-811del	NP_001305017.1:n.-814_-811del
NM_001365135.2:c.148_151del	NP_001352064.1:p.Ser50ThrfsTer26
NR_027400.3:n.273_276del
NR_134502.2:n.273_276del