Canonical Allele Identifier: CA5852919

Gene: SMPD1

Linked Data

• dbSNP Id: rs746881346
• ExAC: 11:6415411 GC / G
• gnomAD v2: 11-6415411-GC-G
• MyVariant Identifiers: chr11:g.6415412del (hg19) ; chr11:g.6394182del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394185del , CM000673.2:g.6394185del	GRCh38
NC_000011.9:g.6415415del , CM000673.1:g.6415415del	GRCh37
NC_000011.8:g.6371991del	NCBI36
NG_011780.1:g.8761del
NG_029615.1:g.30233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-13del MANE Select	ENSP00000340409.4:n.1487-13del
ENST00000342245.8:c.1487-13del	ENSP00000340409.4:n.1487-13del
ENST00000526280.1:c.544-13del
ENST00000527275.5:c.1484-13del	ENSP00000435350.1:n.1484-13del
ENST00000531303.5:c.*325del	ENSP00000432625.1:n.*325del
ENST00000531336.1:n.462del
ENST00000533123.5:c.*214-13del	ENSP00000435950.1:n.*214-13del
ENST00000534405.5:c.*318-13del	ENSP00000434353.1:n.*318-13del
NM_000543.4:c.1487-13del	NP_000534.3:n.1487-13del
NM_001007593.2:c.1484-13del	NP_001007594.2:n.1484-13del
XM_005253075.3:c.1494del	XP_005253132.1:p.Thr499HisfsTer25
XM_011520303.1:c.1355-13del	XP_011518605.1:n.1355-13del
XM_011520304.1:c.1362del	XP_011518606.1:p.Thr455HisfsTer25
NM_001318087.1:c.1494del	NP_001305016.1:p.Thr499HisfsTer25
NM_001318088.1:c.566-13del	NP_001305017.1:n.566-13del
NM_001365135.1:c.1355-13del	NP_001352064.1:n.1355-13del
NR_027400.2:n.1500-13del
NR_134502.1:n.1026del
XM_011520304.2:c.1362del	XP_011518606.1:p.Thr455HisfsTer25
XR_001747940.2:n.1659del
XR_002957158.1:n.1854-13del
NM_000543.5:c.1487-13del MANE Select	NP_000534.3:n.1487-13del
NM_001007593.3:c.1484-13del	NP_001007594.2:n.1484-13del
NM_001318087.2:c.1494del	NP_001305016.1:p.Thr499HisfsTer25
NM_001318088.2:c.566-13del	NP_001305017.1:n.566-13del
NM_001365135.2:c.1355-13del	NP_001352064.1:n.1355-13del
NR_027400.3:n.1440-13del
NR_134502.2:n.966del