Canonical Allele Identifier: CA1148292220
Gene: FDPS HGNC NCBI
RUSC1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155318183G= , CM000663.2:g.155318183G= GRCh38
NC_000001.10:g.155287974G= , CM000663.1:g.155287974G= GRCh37
NC_000001.9:g.153554598G= NCBI36
NG_045218.1:g.14436G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368356.9:c.576G= (FDPS) MANE Select ENSP00000357340.4:p.Leu192=
ENST00000356657.10:c.576G= (FDPS) ENSP00000349078.6:p.Leu192=
ENST00000368356.8:c.576G= (FDPS) ENSP00000357340.4:p.Leu192=
ENST00000447866.5:c.378G= (FDPS) ENSP00000391755.1:p.Leu126=
ENST00000461507.5:n.542G= (FDPS)
ENST00000467076.5:c.378G= (FDPS) ENSP00000480142.1:p.Leu126=
ENST00000468479.5:n.590G= (FDPS)
ENST00000470171.5:n.488G= (FDPS)
ENST00000471117.5:n.340G= (FDPS)
ENST00000474345.5:c.*253G= (FDPS) ENSP00000478032.1:n.*253G=
ENST00000477057.5:n.471G= (FDPS)
ENST00000489003.5:n.472G= (FDPS)
ENST00000491013.5:c.576G= (FDPS) ENSP00000479557.1:p.Leu192=
ENST00000492887.5:n.9G= (FDPS)
ENST00000495308.5:n.473G= (FDPS)
ENST00000611010.4:c.63G= (FDPS) ENSP00000483188.1:p.Leu21=
ENST00000612683.1:c.378G= (FDPS) ENSP00000478235.1:p.Leu126=
NM_001135821.1:c.576G= (FDPS) NP_001129293.1:p.Leu192=
NM_001135822.1:c.378G= (FDPS) NP_001129294.1:p.Leu126=
NM_001242824.1:c.378G= (FDPS) NP_001229753.1:p.Leu126=
NM_001242825.1:c.63G= (FDPS) NP_001229754.1:p.Leu21=
NM_002004.3:c.576G= (FDPS) NP_001995.1:p.Leu192=
XM_005244962.1:c.378G= (FDPS) XP_005245019.1:p.Leu126=
XM_005244963.1:c.378G= (FDPS) XP_005245020.1:p.Leu126=
NR_145424.1:n.627+82C= (RUSC1-AS1)
NR_145425.1:n.352+82C= (RUSC1-AS1)
XM_024454066.1:c.576G= (FDPS) XP_024309834.1:p.Leu192=
XM_024454070.1:c.576G= (FDPS) XP_024309838.1:p.Leu192=
XM_024454071.1:c.378G= (FDPS) XP_024309839.1:p.Leu126=
XM_024454072.1:c.378G= (FDPS) XP_024309840.1:p.Leu126=
XM_024454073.1:c.378G= (FDPS) XP_024309841.1:p.Leu126=
XM_024454074.1:c.378G= (FDPS) XP_024309842.1:p.Leu126=
XM_024454076.1:c.63G= (FDPS) XP_024309844.1:p.Leu21=
NM_001135821.2:c.576G= (FDPS) NP_001129293.1:p.Leu192=
NM_001135822.2:c.378G= (FDPS) NP_001129294.1:p.Leu126=
NM_001242824.2:c.378G= (FDPS) NP_001229753.1:p.Leu126=
NM_002004.4:c.576G= (FDPS) MANE Select NP_001995.1:p.Leu192=
NM_001242825.2:c.63G= (FDPS) NP_001229754.1:p.Leu21=
NM_001378424.1:c.378G= (FDPS) NP_001365353.1:p.Leu126=
NM_001378425.1:c.378G= (FDPS) NP_001365354.1:p.Leu126=