Canonical Allele Identifier: CA2695201074

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2679047
• ClinVar RCV Id: RCV003466412 ; RCV003779123

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393227del , CM000673.2:g.6393227del	GRCh38
NC_000011.9:g.6414457del , CM000673.1:g.6414457del	GRCh37
NC_000011.8:g.6371033del	NCBI36
NG_011780.1:g.7803del
NG_029615.1:g.31189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1103del MANE Select	ENSP00000340409.4:p.Phe368SerfsTer17
ENST00000342245.8:c.1103del	ENSP00000340409.4:p.Phe368SerfsTer17
ENST00000526280.1:c.321-390del
ENST00000527275.5:c.1100del	ENSP00000435350.1:p.Phe367SerfsTer17
ENST00000531303.5:c.450del	ENSP00000432625.1:p.Leu151TyrfsTer?
ENST00000533123.5:c.1092-390del	ENSP00000435950.1:n.1092-390del
ENST00000534405.5:c.1143del	ENSP00000434353.1:p.Leu382TyrfsTer?
NM_000543.4:c.1103del	NP_000534.3:p.Phe368SerfsTer17
NM_001007593.2:c.1100del	NP_001007594.2:p.Phe367SerfsTer17
XM_005253075.3:c.1103del	XP_005253132.1:p.Phe368SerfsTer17
XM_011520303.1:c.1132-390del	XP_011518605.1:n.1132-390del
XM_011520304.1:c.1132-390del	XP_011518606.1:n.1132-390del
XR_930886.1:n.1441del
NM_001318087.1:c.1103del	NP_001305016.1:p.Phe368SerfsTer17
NM_001318088.1:c.182del	NP_001305017.1:p.Phe61SerfsTer17
NM_001365135.1:c.1132-390del	NP_001352064.1:n.1132-390del
NR_027400.2:n.1277-390del
NR_134502.1:n.635del
XM_011520304.2:c.1132-390del	XP_011518606.1:n.1132-390del
XR_001747940.2:n.1268del
XR_002957158.1:n.1268del
NM_000543.5:c.1103del MANE Select	NP_000534.3:p.Phe368SerfsTer17
NM_001007593.3:c.1100del	NP_001007594.2:p.Phe367SerfsTer17
NM_001318087.2:c.1103del	NP_001305016.1:p.Phe368SerfsTer17
NM_001318088.2:c.182del	NP_001305017.1:p.Phe61SerfsTer17
NM_001365135.2:c.1132-390del	NP_001352064.1:n.1132-390del
NR_027400.3:n.1217-390del
NR_134502.2:n.575del