Canonical Allele Identifier: CA10576031

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 225622
• ClinVar RCV Id: RCV000211462
• dbSNP Id: rs875989834
• MyVariant Identifiers: chr11:g.6415432_6415444del (hg19) ; chr11:g.6394202_6394214del (hg38)
• PubMed: PMID:26851525

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394202_6394214del , CM000673.2:g.6394202_6394214del	GRCh38
NC_000011.9:g.6415432_6415444del , CM000673.1:g.6415432_6415444del	GRCh37
NC_000011.8:g.6372008_6372020del	NCBI36
NG_011780.1:g.8778_8790del
NG_029615.1:g.30202_30214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1491_1503del MANE Select	ENSP00000340409.4:p.Tyr497Ter
ENST00000342245.8:c.1491_1503del	ENSP00000340409.4:p.Tyr497Ter
ENST00000526280.1:c.548_560del
ENST00000527275.5:c.1488_1500del	ENSP00000435350.1:p.Tyr496Ter
ENST00000531303.5:c.*342_*354del	ENSP00000432625.1:n.*342_*354del
ENST00000531336.1:n.479_491del
ENST00000533123.5:c.*218_*230del	ENSP00000435950.1:n.*218_*230del
ENST00000534405.5:c.*322_*334del	ENSP00000434353.1:n.*322_*334del
NM_000543.4:c.1491_1503del	NP_000534.3:p.Tyr497Ter
NM_001007593.2:c.1488_1500del	NP_001007594.2:p.Tyr496Ter
XM_005253075.3:c.1511_1523del	XP_005253132.1:p.Thr504AsnfsTer16
XM_011520303.1:c.1359_1371del	XP_011518605.1:p.Tyr453Ter
XM_011520304.1:c.1379_1391del	XP_011518606.1:p.Thr460AsnfsTer16
NM_001318087.1:c.1511_1523del	NP_001305016.1:p.Thr504AsnfsTer16
NM_001318088.1:c.570_582del	NP_001305017.1:p.Tyr190Ter
NM_001365135.1:c.1359_1371del	NP_001352064.1:p.Tyr453Ter
NR_027400.2:n.1504_1516del
NR_134502.1:n.1043_1055del
XM_011520304.2:c.1379_1391del	XP_011518606.1:p.Thr460AsnfsTer16
XR_001747940.2:n.1676_1688del
XR_002957158.1:n.1858_1870del
NM_000543.5:c.1491_1503del MANE Select	NP_000534.3:p.Tyr497Ter
NM_001007593.3:c.1488_1500del	NP_001007594.2:p.Tyr496Ter
NM_001318087.2:c.1511_1523del	NP_001305016.1:p.Thr504AsnfsTer16
NM_001318088.2:c.570_582del	NP_001305017.1:p.Tyr190Ter
NM_001365135.2:c.1359_1371del	NP_001352064.1:p.Tyr453Ter
NR_027400.3:n.1444_1456del
NR_134502.2:n.983_995del