Canonical Allele Identifier: CA2695201065

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2679042
• ClinVar RCV Id: RCV003466409

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394254del , CM000673.2:g.6394254del	GRCh38
NC_000011.9:g.6415484del , CM000673.1:g.6415484del	GRCh37
NC_000011.8:g.6372060del	NCBI36
NG_011780.1:g.8830del
NG_029615.1:g.30162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1543del MANE Select	ENSP00000340409.4:p.Asp515ThrfsTer7
ENST00000342245.8:c.1543del	ENSP00000340409.4:p.Asp515ThrfsTer7
ENST00000526280.1:c.600del
ENST00000527275.5:c.1540del	ENSP00000435350.1:p.Asp514ThrfsTer7
ENST00000531303.5:c.*394del	ENSP00000432625.1:n.*394del
ENST00000531336.1:n.531del
ENST00000533123.5:c.*270del	ENSP00000435950.1:n.*270del
ENST00000534405.5:c.*374del	ENSP00000434353.1:n.*374del
NM_000543.4:c.1543del	NP_000534.3:p.Asp515ThrfsTer7
NM_001007593.2:c.1540del	NP_001007594.2:p.Asp514ThrfsTer7
XM_005253075.3:c.*36del	XP_005253132.1:n.*36del
XM_011520303.1:c.1411del	XP_011518605.1:p.Asp471ThrfsTer7
XM_011520304.1:c.*36del	XP_011518606.1:n.*36del
NM_001318087.1:c.*36del	NP_001305016.1:n.*36del
NM_001318088.1:c.622del	NP_001305017.1:p.Asp208ThrfsTer7
NM_001365135.1:c.1411del	NP_001352064.1:p.Asp471ThrfsTer7
NR_027400.2:n.1556del
NR_134502.1:n.1095del
XM_011520304.2:c.*36del	XP_011518606.1:n.*36del
XR_001747940.2:n.1728del
XR_002957158.1:n.1910del
NM_000543.5:c.1543del MANE Select	NP_000534.3:p.Asp515ThrfsTer7
NM_001007593.3:c.1540del	NP_001007594.2:p.Asp514ThrfsTer7
NM_001318087.2:c.*36del	NP_001305016.1:n.*36del
NM_001318088.2:c.622del	NP_001305017.1:p.Asp208ThrfsTer7
NM_001365135.2:c.1411del	NP_001352064.1:p.Asp471ThrfsTer7
NR_027400.3:n.1496del
NR_134502.2:n.1035del