Canonical Allele Identifier: CA221153
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93321
dbSNP Id: rs281860677

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391907_6391914dup , CM000673.2:g.6391907_6391914dup GRCh38
NC_000011.9:g.6413137_6413144dup , CM000673.1:g.6413137_6413144dup GRCh37
NC_000011.8:g.6369713_6369720dup NCBI36
NG_011780.1:g.6483_6490dup

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.842_849dup MANE Select ENSP00000340409.4:p.His284SerfsTer18
ENST00000342245.8:c.842_849dup ENSP00000340409.4:p.His284SerfsTer18
ENST00000526280.1:n.31_38dup
ENST00000527275.5:c.839_846dup ENSP00000435350.1:p.His283SerfsTer18
ENST00000530395.1:c.23_30dup ENSP00000431479.1:p.His11SerfsTer18
ENST00000531303.5:c.438+404_438+411dup ENSP00000432625.1:p.=
ENST00000533123.5:c.842_849dup ENSP00000435950.1:p.His284SerfsTer18
ENST00000533196.1:n.375-99_375-92dup
ENST00000534405.5:c.842_849dup ENSP00000434353.1:p.His284SerfsTer18
NM_000543.4:c.842_849dup NP_000534.3:p.His284SerfsTer18
NM_001007593.2:c.839_846dup NP_001007594.2:p.His283SerfsTer18
XM_005253075.3:c.842_849dup XP_005253132.1:p.His284SerfsTer18
XM_011520303.1:c.842_849dup XP_011518605.1:p.His284SerfsTer18
XM_011520304.1:c.842_849dup XP_011518606.1:p.His284SerfsTer18
XR_930886.1:n.1140_1147dup
NM_001318087.1:c.842_849dup NP_001305016.1:p.His284SerfsTer18
NM_001318088.1:c.-120_-113dup NP_001305017.1:p.=
NM_001365135.1:c.842_849dup NP_001352064.1:p.His284SerfsTer18
NR_027400.2:n.1027_1034dup
NR_134502.1:n.623+404_623+411dup
XM_011520304.2:c.842_849dup XP_011518606.1:p.His284SerfsTer18
XR_001747940.2:n.967_974dup
XR_002957158.1:n.967_974dup
NM_000543.5:c.842_849dup MANE Select NP_000534.3:p.His284SerfsTer18
NM_001007593.3:c.839_846dup NP_001007594.2:p.His283SerfsTer18
NM_001318087.2:c.842_849dup NP_001305016.1:p.His284SerfsTer18
NM_001318088.2:c.-120_-113dup NP_001305017.1:p.=
NM_001365135.2:c.842_849dup NP_001352064.1:p.His284SerfsTer18
NR_027400.3:n.967_974dup
NR_134502.2:n.563+404_563+411dup