Canonical Allele Identifier: CA2695201075

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2679048
• ClinVar RCV Id: RCV003466413

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393633_6393639del , CM000673.2:g.6393633_6393639del	GRCh38
NC_000011.9:g.6414863_6414869del , CM000673.1:g.6414863_6414869del	GRCh37
NC_000011.8:g.6371439_6371445del	NCBI36
NG_011780.1:g.8209_8215del
NG_029615.1:g.30778_30784del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1280_1286del MANE Select	ENSP00000340409.4:p.His427ProfsTer6
ENST00000342245.8:c.1280_1286del	ENSP00000340409.4:p.His427ProfsTer6
ENST00000526280.1:c.337_343del
ENST00000527275.5:c.1277_1283del	ENSP00000435350.1:p.His426ProfsTer6
ENST00000531303.5:c.*111_*117del	ENSP00000432625.1:n.*111_*117del
ENST00000531336.1:n.112_118del
ENST00000532367.1:n.116_122del
ENST00000533123.5:c.*7_*13del	ENSP00000435950.1:n.*7_*13del
ENST00000534405.5:c.*111_*117del	ENSP00000434353.1:n.*111_*117del
NM_000543.4:c.1280_1286del	NP_000534.3:p.His427ProfsTer6
NM_001007593.2:c.1277_1283del	NP_001007594.2:p.His426ProfsTer6
XM_005253075.3:c.1280_1286del	XP_005253132.1:p.His427ProfsTer6
XM_011520303.1:c.1148_1154del	XP_011518605.1:p.His383ProfsTer6
XM_011520304.1:c.1148_1154del	XP_011518606.1:p.His383ProfsTer6
XR_930886.1:n.1618_1624del
NM_001318087.1:c.1280_1286del	NP_001305016.1:p.His427ProfsTer6
NM_001318088.1:c.359_365del	NP_001305017.1:p.His120ProfsTer6
NM_001365135.1:c.1148_1154del	NP_001352064.1:p.His383ProfsTer6
NR_027400.2:n.1293_1299del
NR_134502.1:n.812_818del
XM_011520304.2:c.1148_1154del	XP_011518606.1:p.His383ProfsTer6
XR_001747940.2:n.1445_1451del
XR_002957158.1:n.1445_1451del
NM_000543.5:c.1280_1286del MANE Select	NP_000534.3:p.His427ProfsTer6
NM_001007593.3:c.1277_1283del	NP_001007594.2:p.His426ProfsTer6
NM_001318087.2:c.1280_1286del	NP_001305016.1:p.His427ProfsTer6
NM_001318088.2:c.359_365del	NP_001305017.1:p.His120ProfsTer6
NM_001365135.2:c.1148_1154del	NP_001352064.1:p.His383ProfsTer6
NR_027400.3:n.1233_1239del
NR_134502.2:n.752_758del