Canonical Allele Identifier: CA16041478
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371203
ClinVar RCV Id: RCV000410791
dbSNP Id: rs1057517086
MyVariant Identifiers: chr11:g.6412714_6412715del (hg19) chr11:g.6391484_6391485del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391484_6391485del , CM000673.2:g.6391484_6391485del GRCh38
NC_000011.9:g.6412714_6412715del , CM000673.1:g.6412714_6412715del GRCh37
NC_000011.8:g.6369290_6369291del NCBI36
NG_011780.1:g.6060_6061del

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.419_420del MANE Select ENSP00000340409.4:p.Phe140Ter
ENST00000342245.8:c.419_420del ENSP00000340409.4:p.Phe140Ter
ENST00000527275.5:c.416_417del ENSP00000435350.1:p.Phe139Ter
ENST00000530395.1:c.-95-306_-95-305del ENSP00000431479.1:n.-95-306_-95-305del
ENST00000531303.5:c.419_420del ENSP00000432625.1:p.Phe140Ter
ENST00000533123.5:c.419_420del ENSP00000435950.1:p.Phe140Ter
ENST00000533196.1:n.375-522_375-521del
ENST00000534405.5:c.419_420del ENSP00000434353.1:p.Phe140Ter
NM_000543.4:c.419_420del NP_000534.3:p.Phe140Ter
NM_001007593.2:c.416_417del NP_001007594.2:p.Phe139Ter
XM_005253075.3:c.419_420del XP_005253132.1:p.Phe140Ter
XM_011520303.1:c.419_420del XP_011518605.1:p.Phe140Ter
XM_011520304.1:c.419_420del XP_011518606.1:p.Phe140Ter
XR_930886.1:n.717_718del
NM_001318087.1:c.419_420del NP_001305016.1:p.Phe140Ter
NM_001318088.1:c.-543_-542del NP_001305017.1:n.-543_-542del
NM_001365135.1:c.419_420del NP_001352064.1:p.Phe140Ter
NR_027400.2:n.604_605del
NR_134502.1:n.604_605del
XM_011520304.2:c.419_420del XP_011518606.1:p.Phe140Ter
XR_001747940.2:n.544_545del
XR_002957158.1:n.544_545del
NM_000543.5:c.419_420del MANE Select NP_000534.3:p.Phe140Ter
NM_001007593.3:c.416_417del NP_001007594.2:p.Phe139Ter
NM_001318087.2:c.419_420del NP_001305016.1:p.Phe140Ter
NM_001318088.2:c.-543_-542del NP_001305017.1:n.-543_-542del
NM_001365135.2:c.419_420del NP_001352064.1:p.Phe140Ter
NR_027400.3:n.544_545del
NR_134502.2:n.544_545del
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