Canonical Allele Identifier: CA1950150374
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394719G= , CM000673.2:g.6394719G= GRCh38
NC_000011.9:g.6415949G= , CM000673.1:g.6415949G= GRCh37
NC_000011.8:g.6372525G= NCBI36
NG_011780.1:g.9295G=
NG_029615.1:g.29696C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.*112G= MANE Select ENSP00000340409.4:n.*112G=
ENST00000342245.8:c.*112G= ENSP00000340409.4:n.*112G=
ENST00000526280.1:c.1065G=
ENST00000527275.5:c.*112G= ENSP00000435350.1:n.*112G=
ENST00000531303.5:c.*859G= ENSP00000432625.1:n.*859G=
ENST00000533123.5:c.*735G= ENSP00000435950.1:n.*735G=
ENST00000534405.5:c.*839G= ENSP00000434353.1:n.*839G=
NM_000543.4:c.*112G= NP_000534.3:n.*112G=
NM_001007593.2:c.*112G= NP_001007594.2:n.*112G=
XM_011520303.1:c.*112G= XP_011518605.1:n.*112G=
NM_001318087.1:c.*501G= NP_001305016.1:n.*501G=
NM_001318088.1:c.*112G= NP_001305017.1:n.*112G=
NM_001365135.1:c.*112G= NP_001352064.1:n.*112G=
NR_027400.2:n.2021G=
NR_134502.1:n.1560G=
XR_001747940.2:n.2193G=
XR_002957158.1:n.2375G=
NM_000543.5:c.*112G= MANE Select NP_000534.3:n.*112G=
NM_001007593.3:c.*112G= NP_001007594.2:n.*112G=
NM_001318087.2:c.*501G= NP_001305016.1:n.*501G=
NM_001318088.2:c.*112G= NP_001305017.1:n.*112G=
NM_001365135.2:c.*112G= NP_001352064.1:n.*112G=
NR_027400.3:n.1961G=
NR_134502.2:n.1500G=