Canonical Allele Identifier: CA16041482
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371530
ClinVar RCV Id: RCV000409737
dbSNP Id: rs1057517345

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392059_6392060delinsG , CM000673.2:g.6392059_6392060delinsG GRCh38
NC_000011.9:g.6413289_6413290delinsG , CM000673.1:g.6413289_6413290delinsG GRCh37
NC_000011.8:g.6369865_6369866delinsG NCBI36
NG_011780.1:g.6635_6636delinsG

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.994_995delinsG MANE Select ENSP00000340409.4:p.Pro332AlafsTer?
ENST00000342245.8:c.994_995delinsG ENSP00000340409.4:p.Pro332AlafsTer?
ENST00000526280.1:c.183_184delinsG
ENST00000527275.5:c.991_992delinsG ENSP00000435350.1:p.Pro331AlafsTer?
ENST00000531303.5:c.438+556_438+557delinsG ENSP00000432625.1:n.438+556_438+557delins...
ENST00000533123.5:c.994_995delinsG ENSP00000435950.1:p.Pro332AlafsTer?
ENST00000534405.5:c.994_995delinsG ENSP00000434353.1:p.Pro332AlafsTer?
NM_000543.4:c.994_995delinsG NP_000534.3:p.Pro332AlafsTer?
NM_001007593.2:c.991_992delinsG NP_001007594.2:p.Pro331AlafsTer?
XM_005253075.3:c.994_995delinsG XP_005253132.1:p.Pro332AlafsTer?
XM_011520303.1:c.994_995delinsG XP_011518605.1:p.Pro332AlafsTer?
XM_011520304.1:c.994_995delinsG XP_011518606.1:p.Pro332AlafsTer?
XR_930886.1:n.1292_1293delinsG
NM_001318087.1:c.994_995delinsG NP_001305016.1:p.Pro332AlafsTer?
NM_001318088.1:c.33_34delinsG NP_001305017.1:p.Pro12LeufsTer3
NM_001365135.1:c.994_995delinsG NP_001352064.1:p.Pro332AlafsTer?
NR_027400.2:n.1179_1180delinsG
NR_134502.1:n.623+556_623+557delinsG
XM_011520304.2:c.994_995delinsG XP_011518606.1:p.Pro332AlafsTer?
XR_001747940.2:n.1119_1120delinsG
XR_002957158.1:n.1119_1120delinsG
NM_000543.5:c.994_995delinsG MANE Select NP_000534.3:p.Pro332AlafsTer?
NM_001007593.3:c.991_992delinsG NP_001007594.2:p.Pro331AlafsTer?
NM_001318087.2:c.994_995delinsG NP_001305016.1:p.Pro332AlafsTer?
NM_001318088.2:c.33_34delinsG NP_001305017.1:p.Pro12LeufsTer3
NM_001365135.2:c.994_995delinsG NP_001352064.1:p.Pro332AlafsTer?
NR_027400.3:n.1119_1120delinsG
NR_134502.2:n.563+556_563+557delinsG