Canonical Allele Identifier: CA1950150271
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394619C= , CM000673.2:g.6394619C= GRCh38
NC_000011.9:g.6415849C= , CM000673.1:g.6415849C= GRCh37
NC_000011.8:g.6372425C= NCBI36
NG_011780.1:g.9195C=
NG_029615.1:g.29796G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.*12C= MANE Select ENSP00000340409.4:n.*12C=
ENST00000342245.8:c.*12C= ENSP00000340409.4:n.*12C=
ENST00000526280.1:c.965C=
ENST00000527275.5:c.*12C= ENSP00000435350.1:n.*12C=
ENST00000531303.5:c.*759C= ENSP00000432625.1:n.*759C=
ENST00000533123.5:c.*635C= ENSP00000435950.1:n.*635C=
ENST00000534405.5:c.*739C= ENSP00000434353.1:n.*739C=
NM_000543.4:c.*12C= NP_000534.3:n.*12C=
NM_001007593.2:c.*12C= NP_001007594.2:n.*12C=
XM_011520303.1:c.*12C= XP_011518605.1:n.*12C=
NM_001318087.1:c.*401C= NP_001305016.1:n.*401C=
NM_001318088.1:c.*12C= NP_001305017.1:n.*12C=
NM_001365135.1:c.*12C= NP_001352064.1:n.*12C=
NR_027400.2:n.1921C=
NR_134502.1:n.1460C=
XR_001747940.2:n.2093C=
XR_002957158.1:n.2275C=
NM_000543.5:c.*12C= MANE Select NP_000534.3:n.*12C=
NM_001007593.3:c.*12C= NP_001007594.2:n.*12C=
NM_001318087.2:c.*401C= NP_001305016.1:n.*401C=
NM_001318088.2:c.*12C= NP_001305017.1:n.*12C=
NM_001365135.2:c.*12C= NP_001352064.1:n.*12C=
NR_027400.3:n.1861C=
NR_134502.2:n.1400C=