Canonical Allele Identifier: CA1950150334
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394687G= , CM000673.2:g.6394687G= GRCh38
NC_000011.9:g.6415917G= , CM000673.1:g.6415917G= GRCh37
NC_000011.8:g.6372493G= NCBI36
NG_011780.1:g.9263G=
NG_029615.1:g.29728C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.*80G= MANE Select ENSP00000340409.4:n.*80G=
ENST00000342245.8:c.*80G= ENSP00000340409.4:n.*80G=
ENST00000526280.1:c.1033G=
ENST00000527275.5:c.*80G= ENSP00000435350.1:n.*80G=
ENST00000531303.5:c.*827G= ENSP00000432625.1:n.*827G=
ENST00000533123.5:c.*703G= ENSP00000435950.1:n.*703G=
ENST00000534405.5:c.*807G= ENSP00000434353.1:n.*807G=
NM_000543.4:c.*80G= NP_000534.3:n.*80G=
NM_001007593.2:c.*80G= NP_001007594.2:n.*80G=
XM_011520303.1:c.*80G= XP_011518605.1:n.*80G=
NM_001318087.1:c.*469G= NP_001305016.1:n.*469G=
NM_001318088.1:c.*80G= NP_001305017.1:n.*80G=
NM_001365135.1:c.*80G= NP_001352064.1:n.*80G=
NR_027400.2:n.1989G=
NR_134502.1:n.1528G=
XR_001747940.2:n.2161G=
XR_002957158.1:n.2343G=
NM_000543.5:c.*80G= MANE Select NP_000534.3:n.*80G=
NM_001007593.3:c.*80G= NP_001007594.2:n.*80G=
NM_001318087.2:c.*469G= NP_001305016.1:n.*469G=
NM_001318088.2:c.*80G= NP_001305017.1:n.*80G=
NM_001365135.2:c.*80G= NP_001352064.1:n.*80G=
NR_027400.3:n.1929G=
NR_134502.2:n.1468G=