Canonical Allele Identifier: CA597438127
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1464778478

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390716_6390717insTGCTGG , CM000673.2:g.6390716_6390717insTGCTGG GRCh38
NC_000011.9:g.6411946_6411947insTGCTGG , CM000673.1:g.6411946_6411947insTGCTGG GRCh37
NC_000011.8:g.6368522_6368523insTGCTGG NCBI36
NG_011780.1:g.5292_5293insTGCTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.118_119insTGCTGG MANE Select ENSP00000340409.4:p.Leu39_Ala40insValLeu
ENST00000342245.8:c.118_119insTGCTGG ENSP00000340409.4:p.Leu39_Ala40insValLeu
ENST00000527275.5:c.118_119insTGCTGG ENSP00000435350.1:p.Leu39_Ala40insValLeu
ENST00000530395.1:c.-96+77_-96+78insTGCTGG ENSP00000431479.1:n.-96+77_-96+78insTGCTGG
ENST00000531303.5:c.118_119insTGCTGG ENSP00000432625.1:p.Leu39_Ala40insValLeu
ENST00000533123.5:c.118_119insTGCTGG ENSP00000435950.1:p.Leu39_Ala40insValLeu
ENST00000533196.1:n.277_278insTGCTGG
ENST00000534405.5:c.118_119insTGCTGG ENSP00000434353.1:p.Leu39_Ala40insValLeu
NM_000543.4:c.118_119insTGCTGG NP_000534.3:p.Leu39_Ala40insValLeu
NM_001007593.2:c.118_119insTGCTGG NP_001007594.2:p.Leu39_Ala40insValLeu
XM_005253075.3:c.118_119insTGCTGG XP_005253132.1:p.Leu39_Ala40insValLeu
XM_011520303.1:c.118_119insTGCTGG XP_011518605.1:p.Leu39_Ala40insValLeu
XM_011520304.1:c.118_119insTGCTGG XP_011518606.1:p.Leu39_Ala40insValLeu
XR_930886.1:n.416_417insTGCTGG
NM_001318087.1:c.118_119insTGCTGG NP_001305016.1:p.Leu39_Ala40insValLeu
NM_001318088.1:c.-844_-843insTGCTGG NP_001305017.1:n.-844_-843insTGCTGG
NM_001365135.1:c.118_119insTGCTGG NP_001352064.1:p.Leu39_Ala40insValLeu
NR_027400.2:n.303_304insTGCTGG
NR_134502.1:n.303_304insTGCTGG
XM_011520304.2:c.118_119insTGCTGG XP_011518606.1:p.Leu39_Ala40insValLeu
XR_001747940.2:n.243_244insTGCTGG
XR_002957158.1:n.243_244insTGCTGG
NM_000543.5:c.118_119insTGCTGG MANE Select NP_000534.3:p.Leu39_Ala40insValLeu
NM_001007593.3:c.118_119insTGCTGG NP_001007594.2:p.Leu39_Ala40insValLeu
NM_001318087.2:c.118_119insTGCTGG NP_001305016.1:p.Leu39_Ala40insValLeu
NM_001318088.2:c.-844_-843insTGCTGG NP_001305017.1:n.-844_-843insTGCTGG
NM_001365135.2:c.118_119insTGCTGG NP_001352064.1:p.Leu39_Ala40insValLeu
NR_027400.3:n.243_244insTGCTGG
NR_134502.2:n.243_244insTGCTGG