Canonical Allele Identifier: CA5852527
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs778415447
gnomAD v2: 11-6412054-A-G
gnomAD v4: 11-6390824-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390824A>G , CM000673.2:g.6390824A>G GRCh38
NC_000011.9:g.6412054A>G , CM000673.1:g.6412054A>G GRCh37
NC_000011.8:g.6368630A>G NCBI36
NG_011780.1:g.5400A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.226A>G MANE Select ENSP00000340409.4:p.Ile76Val
ENST00000342245.8:c.226A>G ENSP00000340409.4:p.Ile76Val
ENST00000527275.5:c.226A>G ENSP00000435350.1:p.Ile76Val
ENST00000530395.1:c.-96+185A>G ENSP00000431479.1:n.-96+185A>G
ENST00000531303.5:c.226A>G ENSP00000432625.1:p.Ile76Val
ENST00000533123.5:c.226A>G ENSP00000435950.1:p.Ile76Val
ENST00000533196.1:n.374+11A>G
ENST00000534405.5:c.226A>G ENSP00000434353.1:p.Ile76Val
NM_000543.4:c.226A>G NP_000534.3:p.Ile76Val
NM_001007593.2:c.226A>G NP_001007594.2:p.Ile76Val
XM_005253075.3:c.226A>G XP_005253132.1:p.Ile76Val
XM_011520303.1:c.226A>G XP_011518605.1:p.Ile76Val
XM_011520304.1:c.226A>G XP_011518606.1:p.Ile76Val
XR_930886.1:n.524A>G
NM_001318087.1:c.226A>G NP_001305016.1:p.Ile76Val
NM_001318088.1:c.-736A>G NP_001305017.1:n.-736A>G
NM_001365135.1:c.226A>G NP_001352064.1:p.Ile76Val
NR_027400.2:n.411A>G
NR_134502.1:n.411A>G
XM_011520304.2:c.226A>G XP_011518606.1:p.Ile76Val
XR_001747940.2:n.351A>G
XR_002957158.1:n.351A>G
NM_000543.5:c.226A>G MANE Select NP_000534.3:p.Ile76Val
NM_001007593.3:c.226A>G NP_001007594.2:p.Ile76Val
NM_001318087.2:c.226A>G NP_001305016.1:p.Ile76Val
NM_001318088.2:c.-736A>G NP_001305017.1:n.-736A>G
NM_001365135.2:c.226A>G NP_001352064.1:p.Ile76Val
NR_027400.3:n.351A>G
NR_134502.2:n.351A>G