Canonical Allele Identifier: CA2580083936

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1725349
• ClinVar RCV Id: RCV002309033

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390766_6390767del , CM000673.2:g.6390766_6390767del	GRCh38
NC_000011.9:g.6411996_6411997del , CM000673.1:g.6411996_6411997del	GRCh37
NC_000011.8:g.6368572_6368573del	NCBI36
NG_011780.1:g.5342_5343del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.168_169del MANE Select	ENSP00000340409.4:p.Trp56CysfsTer?
ENST00000342245.8:c.168_169del	ENSP00000340409.4:p.Trp56CysfsTer?
ENST00000527275.5:c.168_169del	ENSP00000435350.1:p.Trp56CysfsTer?
ENST00000530395.1:c.-96+127_-96+128del	ENSP00000431479.1:n.-96+127_-96+128del
ENST00000531303.5:c.168_169del	ENSP00000432625.1:p.Trp56CysfsTer?
ENST00000533123.5:c.168_169del	ENSP00000435950.1:p.Trp56CysfsTer?
ENST00000533196.1:n.327_328del
ENST00000534405.5:c.168_169del	ENSP00000434353.1:p.Trp56CysfsTer?
NM_000543.4:c.168_169del	NP_000534.3:p.Trp56CysfsTer?
NM_001007593.2:c.168_169del	NP_001007594.2:p.Trp56CysfsTer?
XM_005253075.3:c.168_169del	XP_005253132.1:p.Trp56CysfsTer?
XM_011520303.1:c.168_169del	XP_011518605.1:p.Trp56CysfsTer?
XM_011520304.1:c.168_169del	XP_011518606.1:p.Trp56CysfsTer?
XR_930886.1:n.466_467del
NM_001318087.1:c.168_169del	NP_001305016.1:p.Trp56CysfsTer?
NM_001318088.1:c.-794_-793del	NP_001305017.1:n.-794_-793del
NM_001365135.1:c.168_169del	NP_001352064.1:p.Trp56CysfsTer?
NR_027400.2:n.353_354del
NR_134502.1:n.353_354del
XM_011520304.2:c.168_169del	XP_011518606.1:p.Trp56CysfsTer?
XR_001747940.2:n.293_294del
XR_002957158.1:n.293_294del
NM_000543.5:c.168_169del MANE Select	NP_000534.3:p.Trp56CysfsTer?
NM_001007593.3:c.168_169del	NP_001007594.2:p.Trp56CysfsTer?
NM_001318087.2:c.168_169del	NP_001305016.1:p.Trp56CysfsTer?
NM_001318088.2:c.-794_-793del	NP_001305017.1:n.-794_-793del
NM_001365135.2:c.168_169del	NP_001352064.1:p.Trp56CysfsTer?
NR_027400.3:n.293_294del
NR_134502.2:n.293_294del