Canonical Allele Identifier: CA274041

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 188853
• ClinVar RCV Id: RCV000169205 ; RCV003765054
• dbSNP Id: rs786204514
• gnomAD v4: 11-6393232-GCT-G
• MyVariant Identifiers: chr11:g.6414465_6414466del (hg19) ; chr11:g.6393235_6393236del (hg38)
• PubMed: PMID:15221801 ; PMID:18052040

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393235_6393236del , CM000673.2:g.6393235_6393236del	GRCh38
NC_000011.9:g.6414465_6414466del , CM000673.1:g.6414465_6414466del	GRCh37
NC_000011.8:g.6371041_6371042del	NCBI36
NG_011780.1:g.7811_7812del
NG_029615.1:g.31181_31182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1111_1112del MANE Select	ENSP00000340409.4:p.Leu371PhefsTer19
ENST00000342245.8:c.1111_1112del	ENSP00000340409.4:p.Leu371PhefsTer19
ENST00000526280.1:c.321-382_321-381del
ENST00000527275.5:c.1108_1109del	ENSP00000435350.1:p.Leu370PhefsTer19
ENST00000531303.5:c.458_459del	ENSP00000432625.1:p.Ser153PhefsTer14
ENST00000533123.5:c.1092-382_1092-381del	ENSP00000435950.1:n.1092-382_1092-381del
ENST00000534405.5:c.1151_1152del	ENSP00000434353.1:p.Ser384PhefsTer14
NM_000543.4:c.1111_1112del	NP_000534.3:p.Leu371PhefsTer19
NM_001007593.2:c.1108_1109del	NP_001007594.2:p.Leu370PhefsTer19
XM_005253075.3:c.1111_1112del	XP_005253132.1:p.Leu371PhefsTer19
XM_011520303.1:c.1132-382_1132-381del	XP_011518605.1:n.1132-382_1132-381del
XM_011520304.1:c.1132-382_1132-381del	XP_011518606.1:n.1132-382_1132-381del
XR_930886.1:n.1449_1450del
NM_001318087.1:c.1111_1112del	NP_001305016.1:p.Leu371PhefsTer19
NM_001318088.1:c.190_191del	NP_001305017.1:p.Leu64PhefsTer19
NM_001365135.1:c.1132-382_1132-381del	NP_001352064.1:n.1132-382_1132-381del
NR_027400.2:n.1277-382_1277-381del
NR_134502.1:n.643_644del
XM_011520304.2:c.1132-382_1132-381del	XP_011518606.1:n.1132-382_1132-381del
XR_001747940.2:n.1276_1277del
XR_002957158.1:n.1276_1277del
NM_000543.5:c.1111_1112del MANE Select	NP_000534.3:p.Leu371PhefsTer19
NM_001007593.3:c.1108_1109del	NP_001007594.2:p.Leu370PhefsTer19
NM_001318087.2:c.1111_1112del	NP_001305016.1:p.Leu371PhefsTer19
NM_001318088.2:c.190_191del	NP_001305017.1:p.Leu64PhefsTer19
NM_001365135.2:c.1132-382_1132-381del	NP_001352064.1:n.1132-382_1132-381del
NR_027400.3:n.1217-382_1217-381del
NR_134502.2:n.583_584del