Canonical Allele Identifier: CA379371568
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392062T>G , CM000673.2:g.6392062T>G GRCh38
NC_000011.9:g.6413292T>G , CM000673.1:g.6413292T>G GRCh37
NC_000011.8:g.6369868T>G NCBI36
NG_011780.1:g.6638T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.997T>G MANE Select ENSP00000340409.4:p.Phe333Val
ENST00000342245.8:c.997T>G ENSP00000340409.4:p.Phe333Val
ENST00000526280.1:c.186T>G
ENST00000527275.5:c.994T>G ENSP00000435350.1:p.Phe332Val
ENST00000531303.5:c.438+559T>G ENSP00000432625.1:n.438+559T>G
ENST00000533123.5:c.997T>G ENSP00000435950.1:p.Phe333Val
ENST00000534405.5:c.997T>G ENSP00000434353.1:p.Phe333Val
NM_000543.4:c.997T>G NP_000534.3:p.Phe333Val
NM_001007593.2:c.994T>G NP_001007594.2:p.Phe332Val
XM_005253075.3:c.997T>G XP_005253132.1:p.Phe333Val
XM_011520303.1:c.997T>G XP_011518605.1:p.Phe333Val
XM_011520304.1:c.997T>G XP_011518606.1:p.Phe333Val
XR_930886.1:n.1295T>G
NM_001318087.1:c.997T>G NP_001305016.1:p.Phe333Val
NM_001318088.1:c.36T>G NP_001305017.1:p.Pro12=
NM_001365135.1:c.997T>G NP_001352064.1:p.Phe333Val
NR_027400.2:n.1182T>G
NR_134502.1:n.623+559T>G
XM_011520304.2:c.997T>G XP_011518606.1:p.Phe333Val
XR_001747940.2:n.1122T>G
XR_002957158.1:n.1122T>G
NM_000543.5:c.997T>G MANE Select NP_000534.3:p.Phe333Val
NM_001007593.3:c.994T>G NP_001007594.2:p.Phe332Val
NM_001318087.2:c.997T>G NP_001305016.1:p.Phe333Val
NM_001318088.2:c.36T>G NP_001305017.1:p.Pro12=
NM_001365135.2:c.997T>G NP_001352064.1:p.Phe333Val
NR_027400.3:n.1122T>G
NR_134502.2:n.563+559T>G