Canonical Allele Identifier: CA1139661803

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 959328
• ClinVar RCV Id: RCV001232656
• dbSNP Id: rs1847863441

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390708_6390714del , CM000673.2:g.6390708_6390714del	GRCh38
NC_000011.9:g.6411938_6411944del , CM000673.1:g.6411938_6411944del	GRCh37
NC_000011.8:g.6368514_6368520del	NCBI36
NG_011780.1:g.5284_5290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.110_116del MANE Select	ENSP00000340409.4:p.Leu37ArgfsTer?
ENST00000342245.8:c.110_116del	ENSP00000340409.4:p.Leu37ArgfsTer?
ENST00000527275.5:c.110_116del	ENSP00000435350.1:p.Leu37ArgfsTer?
ENST00000530395.1:c.-96+69_-96+75del	ENSP00000431479.1:n.-96+69_-96+75del
ENST00000531303.5:c.110_116del	ENSP00000432625.1:p.Leu37ArgfsTer?
ENST00000533123.5:c.110_116del	ENSP00000435950.1:p.Leu37ArgfsTer?
ENST00000533196.1:n.269_275del
ENST00000534405.5:c.110_116del	ENSP00000434353.1:p.Leu37ArgfsTer?
NM_000543.4:c.110_116del	NP_000534.3:p.Leu37ArgfsTer?
NM_001007593.2:c.110_116del	NP_001007594.2:p.Leu37ArgfsTer?
XM_005253075.3:c.110_116del	XP_005253132.1:p.Leu37ArgfsTer?
XM_011520303.1:c.110_116del	XP_011518605.1:p.Leu37ArgfsTer?
XM_011520304.1:c.110_116del	XP_011518606.1:p.Leu37ArgfsTer?
XR_930886.1:n.408_414del
NM_001318087.1:c.110_116del	NP_001305016.1:p.Leu37ArgfsTer?
NM_001318088.1:c.-852_-846del	NP_001305017.1:n.-852_-846del
NM_001365135.1:c.110_116del	NP_001352064.1:p.Leu37ArgfsTer?
NR_027400.2:n.295_301del
NR_134502.1:n.295_301del
XM_011520304.2:c.110_116del	XP_011518606.1:p.Leu37ArgfsTer?
XR_001747940.2:n.235_241del
XR_002957158.1:n.235_241del
NM_000543.5:c.110_116del MANE Select	NP_000534.3:p.Leu37ArgfsTer?
NM_001007593.3:c.110_116del	NP_001007594.2:p.Leu37ArgfsTer?
NM_001318087.2:c.110_116del	NP_001305016.1:p.Leu37ArgfsTer?
NM_001318088.2:c.-852_-846del	NP_001305017.1:n.-852_-846del
NM_001365135.2:c.110_116del	NP_001352064.1:p.Leu37ArgfsTer?
NR_027400.3:n.235_241del
NR_134502.2:n.235_241del