Canonical Allele Identifier: CA1950145539
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390488A= , CM000673.2:g.6390488A= GRCh38
NC_000011.9:g.6411718A= , CM000673.1:g.6411718A= GRCh37
NC_000011.8:g.6368294A= NCBI36
NG_011780.1:g.5064A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.-111A= MANE Select ENSP00000340409.4:n.-111A=
ENST00000342245.8:c.-111A= ENSP00000340409.4:n.-111A=
ENST00000527275.5:c.-111A= ENSP00000435350.1:n.-111A=
ENST00000530395.1:c.-247A= ENSP00000431479.1:n.-247A=
ENST00000533196.1:n.49A=
ENST00000534405.5:c.-111A= ENSP00000434353.1:n.-111A=
NM_000543.4:c.-111A= NP_000534.3:n.-111A=
NM_001007593.2:c.-111A= NP_001007594.2:n.-111A=
XM_005253075.3:c.-111A= XP_005253132.1:n.-111A=
XM_011520303.1:c.-111A= XP_011518605.1:n.-111A=
XM_011520304.1:c.-111A= XP_011518606.1:n.-111A=
XR_930886.1:n.188A=
NM_001318087.1:c.-111A= NP_001305016.1:n.-111A=
NM_001318088.1:c.-1072A= NP_001305017.1:n.-1072A=
NM_001365135.1:c.-111A= NP_001352064.1:n.-111A=
NR_027400.2:n.75A=
NR_134502.1:n.75A=
XM_011520304.2:c.-111A= XP_011518606.1:n.-111A=
XR_001747940.2:n.15A=
XR_002957158.1:n.15A=
NM_000543.5:c.-111A= MANE Select NP_000534.3:n.-111A=
NM_001007593.3:c.-111A= NP_001007594.2:n.-111A=
NM_001318087.2:c.-111A= NP_001305016.1:n.-111A=
NM_001318088.2:c.-1072A= NP_001305017.1:n.-1072A=
NM_001365135.2:c.-111A= NP_001352064.1:n.-111A=
NR_027400.3:n.15A=
NR_134502.2:n.15A=