Canonical Allele Identifier: CA1950150498
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394850G= , CM000673.2:g.6394850G= GRCh38
NC_000011.9:g.6416080G= , CM000673.1:g.6416080G= GRCh37
NC_000011.8:g.6372656G= NCBI36
NG_011780.1:g.9426G=
NG_029615.1:g.29565C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.*243G= MANE Select ENSP00000340409.4:n.*243G=
ENST00000342245.8:c.*243G= ENSP00000340409.4:n.*243G=
ENST00000526280.1:c.1196G=
ENST00000533123.5:c.*866G= ENSP00000435950.1:n.*866G=
ENST00000534405.5:c.*970G= ENSP00000434353.1:n.*970G=
NM_000543.4:c.*243G= NP_000534.3:n.*243G=
NM_001007593.2:c.*243G= NP_001007594.2:n.*243G=
XM_011520303.1:c.*243G= XP_011518605.1:n.*243G=
NM_001318087.1:c.*632G= NP_001305016.1:n.*632G=
NM_001318088.1:c.*243G= NP_001305017.1:n.*243G=
NM_001365135.1:c.*243G= NP_001352064.1:n.*243G=
NR_027400.2:n.2152G=
NR_134502.1:n.1691G=
XR_001747940.2:n.2324G=
XR_002957158.1:n.2506G=
NM_000543.5:c.*243G= MANE Select NP_000534.3:n.*243G=
NM_001007593.3:c.*243G= NP_001007594.2:n.*243G=
NM_001318087.2:c.*632G= NP_001305016.1:n.*632G=
NM_001318088.2:c.*243G= NP_001305017.1:n.*243G=
NM_001365135.2:c.*243G= NP_001352064.1:n.*243G=
NR_027400.3:n.2092G=
NR_134502.2:n.1631G=