Canonical Allele Identifier: CA1950150267
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394617G= , CM000673.2:g.6394617G= GRCh38
NC_000011.9:g.6415847G= , CM000673.1:g.6415847G= GRCh37
NC_000011.8:g.6372423G= NCBI36
NG_011780.1:g.9193G=
NG_029615.1:g.29798C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.*10G= MANE Select ENSP00000340409.4:n.*10G=
ENST00000342245.8:c.*10G= ENSP00000340409.4:n.*10G=
ENST00000526280.1:c.963G=
ENST00000527275.5:c.*10G= ENSP00000435350.1:n.*10G=
ENST00000531303.5:c.*757G= ENSP00000432625.1:n.*757G=
ENST00000533123.5:c.*633G= ENSP00000435950.1:n.*633G=
ENST00000534405.5:c.*737G= ENSP00000434353.1:n.*737G=
NM_000543.4:c.*10G= NP_000534.3:n.*10G=
NM_001007593.2:c.*10G= NP_001007594.2:n.*10G=
XM_011520303.1:c.*10G= XP_011518605.1:n.*10G=
NM_001318087.1:c.*399G= NP_001305016.1:n.*399G=
NM_001318088.1:c.*10G= NP_001305017.1:n.*10G=
NM_001365135.1:c.*10G= NP_001352064.1:n.*10G=
NR_027400.2:n.1919G=
NR_134502.1:n.1458G=
XR_001747940.2:n.2091G=
XR_002957158.1:n.2273G=
NM_000543.5:c.*10G= MANE Select NP_000534.3:n.*10G=
NM_001007593.3:c.*10G= NP_001007594.2:n.*10G=
NM_001318087.2:c.*399G= NP_001305016.1:n.*399G=
NM_001318088.2:c.*10G= NP_001305017.1:n.*10G=
NM_001365135.2:c.*10G= NP_001352064.1:n.*10G=
NR_027400.3:n.1859G=
NR_134502.2:n.1398G=