Canonical Allele Identifier: CA1950150438
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394788G= , CM000673.2:g.6394788G= GRCh38
NC_000011.9:g.6416018G= , CM000673.1:g.6416018G= GRCh37
NC_000011.8:g.6372594G= NCBI36
NG_011780.1:g.9364G=
NG_029615.1:g.29627C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.*181G= MANE Select ENSP00000340409.4:n.*181G=
ENST00000342245.8:c.*181G= ENSP00000340409.4:n.*181G=
ENST00000526280.1:c.1134G=
ENST00000533123.5:c.*804G= ENSP00000435950.1:n.*804G=
ENST00000534405.5:c.*908G= ENSP00000434353.1:n.*908G=
NM_000543.4:c.*181G= NP_000534.3:n.*181G=
NM_001007593.2:c.*181G= NP_001007594.2:n.*181G=
XM_011520303.1:c.*181G= XP_011518605.1:n.*181G=
NM_001318087.1:c.*570G= NP_001305016.1:n.*570G=
NM_001318088.1:c.*181G= NP_001305017.1:n.*181G=
NM_001365135.1:c.*181G= NP_001352064.1:n.*181G=
NR_027400.2:n.2090G=
NR_134502.1:n.1629G=
XR_001747940.2:n.2262G=
XR_002957158.1:n.2444G=
NM_000543.5:c.*181G= MANE Select NP_000534.3:n.*181G=
NM_001007593.3:c.*181G= NP_001007594.2:n.*181G=
NM_001318087.2:c.*570G= NP_001305016.1:n.*570G=
NM_001318088.2:c.*181G= NP_001305017.1:n.*181G=
NM_001365135.2:c.*181G= NP_001352064.1:n.*181G=
NR_027400.3:n.2030G=
NR_134502.2:n.1569G=