Canonical Allele Identifier: CA1144782

Gene: FDPS RUSC1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155319633A>C , CM000663.2:g.155319633A>C	GRCh38
NC_000001.10:g.155289424A>C , CM000663.1:g.155289424A>C	GRCh37
NC_000001.9:g.153556048A>C	NCBI36
NG_045218.1:g.15886A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368356.9:c.869A>C (FDPS) MANE Select	ENSP00000357340.4:p.Glu290Ala
ENST00000356657.10:c.869A>C (FDPS)	ENSP00000349078.6:p.Glu290Ala
ENST00000368356.8:c.869A>C (FDPS)	ENSP00000357340.4:p.Glu290Ala
ENST00000447866.5:c.671A>C (FDPS)	ENSP00000391755.1:p.Glu224Ala
ENST00000467076.5:c.671A>C (FDPS)	ENSP00000480142.1:p.Glu224Ala
ENST00000468479.5:n.883A>C (FDPS)
ENST00000490140.1:n.233A>C (FDPS)
ENST00000492244.5:n.289A>C (FDPS)
ENST00000492887.5:n.302A>C (FDPS)
ENST00000611010.4:c.356A>C (FDPS)	ENSP00000483188.1:p.Glu119Ala
ENST00000612683.1:c.671A>C (FDPS)	ENSP00000478235.1:p.Glu224Ala
NM_001135821.1:c.869A>C (FDPS)	NP_001129293.1:p.Glu290Ala
NM_001135822.1:c.671A>C (FDPS)	NP_001129294.1:p.Glu224Ala
NM_001242824.1:c.671A>C (FDPS)	NP_001229753.1:p.Glu224Ala
NM_001242825.1:c.356A>C (FDPS)	NP_001229754.1:p.Glu119Ala
NM_002004.3:c.869A>C (FDPS)	NP_001995.1:p.Glu290Ala
XM_005244962.1:c.671A>C (FDPS)	XP_005245019.1:p.Glu224Ala
XM_005244963.1:c.671A>C (FDPS)	XP_005245020.1:p.Glu224Ala
NR_145424.1:n.495+170T>G (RUSC1-AS1)
NR_145425.1:n.220+170T>G (RUSC1-AS1)
XM_024454066.1:c.869A>C (FDPS)	XP_024309834.1:p.Glu290Ala
XM_024454070.1:c.869A>C (FDPS)	XP_024309838.1:p.Glu290Ala
XM_024454071.1:c.671A>C (FDPS)	XP_024309839.1:p.Glu224Ala
XM_024454072.1:c.671A>C (FDPS)	XP_024309840.1:p.Glu224Ala
XM_024454073.1:c.671A>C (FDPS)	XP_024309841.1:p.Glu224Ala
XM_024454074.1:c.671A>C (FDPS)	XP_024309842.1:p.Glu224Ala
XM_024454076.1:c.356A>C (FDPS)	XP_024309844.1:p.Glu119Ala
NM_001135821.2:c.869A>C (FDPS)	NP_001129293.1:p.Glu290Ala
NM_001135822.2:c.671A>C (FDPS)	NP_001129294.1:p.Glu224Ala
NM_001242824.2:c.671A>C (FDPS)	NP_001229753.1:p.Glu224Ala
NM_002004.4:c.869A>C (FDPS) MANE Select	NP_001995.1:p.Glu290Ala
NM_001242825.2:c.356A>C (FDPS)	NP_001229754.1:p.Glu119Ala
NM_001378424.1:c.671A>C (FDPS)	NP_001365353.1:p.Glu224Ala
NM_001378425.1:c.671A>C (FDPS)	NP_001365354.1:p.Glu224Ala