Canonical Allele Identifier: CA1950145532
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390479G= , CM000673.2:g.6390479G= GRCh38
NC_000011.9:g.6411709G= , CM000673.1:g.6411709G= GRCh37
NC_000011.8:g.6368285G= NCBI36
NG_011780.1:g.5055G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.-120G= MANE Select ENSP00000340409.4:n.-120G=
ENST00000342245.8:c.-120G= ENSP00000340409.4:n.-120G=
ENST00000527275.5:c.-120G= ENSP00000435350.1:n.-120G=
ENST00000530395.1:c.-256G= ENSP00000431479.1:n.-256G=
ENST00000533196.1:n.40G=
ENST00000534405.5:c.-120G= ENSP00000434353.1:n.-120G=
NM_000543.4:c.-120G= NP_000534.3:n.-120G=
NM_001007593.2:c.-120G= NP_001007594.2:n.-120G=
XM_005253075.3:c.-120G= XP_005253132.1:n.-120G=
XM_011520303.1:c.-120G= XP_011518605.1:n.-120G=
XM_011520304.1:c.-120G= XP_011518606.1:n.-120G=
XR_930886.1:n.179G=
NM_001318087.1:c.-120G= NP_001305016.1:n.-120G=
NM_001318088.1:c.-1081G= NP_001305017.1:n.-1081G=
NM_001365135.1:c.-120G= NP_001352064.1:n.-120G=
NR_027400.2:n.66G=
NR_134502.1:n.66G=
XM_011520304.2:c.-120G= XP_011518606.1:n.-120G=
XR_001747940.2:n.6G=
XR_002957158.1:n.6G=
NM_000543.5:c.-120G= MANE Select NP_000534.3:n.-120G=
NM_001007593.3:c.-120G= NP_001007594.2:n.-120G=
NM_001318087.2:c.-120G= NP_001305016.1:n.-120G=
NM_001318088.2:c.-1081G= NP_001305017.1:n.-1081G=
NM_001365135.2:c.-120G= NP_001352064.1:n.-120G=
NR_027400.3:n.6G=
NR_134502.2:n.6G=