Canonical Allele Identifier: CA2574738728
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394258_6394259insCG , CM000673.2:g.6394258_6394259insCG GRCh38
NC_000011.9:g.6415488_6415489insCG , CM000673.1:g.6415488_6415489insCG GRCh37
NC_000011.8:g.6372064_6372065insCG NCBI36
NG_011780.1:g.8834_8835insCG
NG_029615.1:g.30156_30157insCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1547_1548insCG MANE Select ENSP00000340409.4:p.Glu517ValfsTer6
ENST00000342245.8:c.1547_1548insCG ENSP00000340409.4:p.Glu517ValfsTer6
ENST00000526280.1:c.604_605insCG
ENST00000527275.5:c.1544_1545insCG ENSP00000435350.1:p.Glu516ValfsTer6
ENST00000531303.5:c.*398_*399insCG ENSP00000432625.1:n.*398_*399insCG
ENST00000531336.1:n.535_536insCG
ENST00000533123.5:c.*274_*275insCG ENSP00000435950.1:n.*274_*275insCG
ENST00000534405.5:c.*378_*379insCG ENSP00000434353.1:n.*378_*379insCG
NM_000543.4:c.1547_1548insCG NP_000534.3:p.Glu517ValfsTer6
NM_001007593.2:c.1544_1545insCG NP_001007594.2:p.Glu516ValfsTer6
XM_005253075.3:c.*40_*41insCG XP_005253132.1:n.*40_*41insCG
XM_011520303.1:c.1415_1416insCG XP_011518605.1:p.Glu473ValfsTer6
XM_011520304.1:c.*40_*41insCG XP_011518606.1:n.*40_*41insCG
NM_001318087.1:c.*40_*41insCG NP_001305016.1:n.*40_*41insCG
NM_001318088.1:c.626_627insCG NP_001305017.1:p.Glu210ValfsTer6
NM_001365135.1:c.1415_1416insCG NP_001352064.1:p.Glu473ValfsTer6
NR_027400.2:n.1560_1561insCG
NR_134502.1:n.1099_1100insCG
XM_011520304.2:c.*40_*41insCG XP_011518606.1:n.*40_*41insCG
XR_001747940.2:n.1732_1733insCG
XR_002957158.1:n.1914_1915insCG
NM_000543.5:c.1547_1548insCG MANE Select NP_000534.3:p.Glu517ValfsTer6
NM_001007593.3:c.1544_1545insCG NP_001007594.2:p.Glu516ValfsTer6
NM_001318087.2:c.*40_*41insCG NP_001305016.1:n.*40_*41insCG
NM_001318088.2:c.626_627insCG NP_001305017.1:p.Glu210ValfsTer6
NM_001365135.2:c.1415_1416insCG NP_001352064.1:p.Glu473ValfsTer6
NR_027400.3:n.1500_1501insCG
NR_134502.2:n.1039_1040insCG