Canonical Allele Identifier: CA342762219

Gene: FDPS RUSC1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.155287969G>T (hg19) ; chr1:g.155318178G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155318178G>T , CM000663.2:g.155318178G>T	GRCh38
NC_000001.10:g.155287969G>T , CM000663.1:g.155287969G>T	GRCh37
NC_000001.9:g.153554593G>T	NCBI36
NG_045218.1:g.14431G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368356.9:c.571G>T (FDPS) MANE Select	ENSP00000357340.4:p.Gly191Cys
ENST00000356657.10:c.571G>T (FDPS)	ENSP00000349078.6:p.Gly191Cys
ENST00000368356.8:c.571G>T (FDPS)	ENSP00000357340.4:p.Gly191Cys
ENST00000447866.5:c.373G>T (FDPS)	ENSP00000391755.1:p.Gly125Cys
ENST00000461507.5:n.537G>T (FDPS)
ENST00000467076.5:c.373G>T (FDPS)	ENSP00000480142.1:p.Gly125Cys
ENST00000468479.5:n.585G>T (FDPS)
ENST00000470171.5:n.483G>T (FDPS)
ENST00000471117.5:n.335G>T (FDPS)
ENST00000474345.5:c.*248G>T (FDPS)	ENSP00000478032.1:n.*248G>T
ENST00000477057.5:n.466G>T (FDPS)
ENST00000489003.5:n.467G>T (FDPS)
ENST00000491013.5:c.571G>T (FDPS)	ENSP00000479557.1:p.Gly191Cys
ENST00000492887.5:n.4G>T (FDPS)
ENST00000495308.5:n.468G>T (FDPS)
ENST00000611010.4:c.58G>T (FDPS)	ENSP00000483188.1:p.Gly20Cys
ENST00000612683.1:c.373G>T (FDPS)	ENSP00000478235.1:p.Gly125Cys
NM_001135821.1:c.571G>T (FDPS)	NP_001129293.1:p.Gly191Cys
NM_001135822.1:c.373G>T (FDPS)	NP_001129294.1:p.Gly125Cys
NM_001242824.1:c.373G>T (FDPS)	NP_001229753.1:p.Gly125Cys
NM_001242825.1:c.58G>T (FDPS)	NP_001229754.1:p.Gly20Cys
NM_002004.3:c.571G>T (FDPS)	NP_001995.1:p.Gly191Cys
XM_005244962.1:c.373G>T (FDPS)	XP_005245019.1:p.Gly125Cys
XM_005244963.1:c.373G>T (FDPS)	XP_005245020.1:p.Gly125Cys
NR_145424.1:n.627+87C>A (RUSC1-AS1)
NR_145425.1:n.352+87C>A (RUSC1-AS1)
XM_024454066.1:c.571G>T (FDPS)	XP_024309834.1:p.Gly191Cys
XM_024454070.1:c.571G>T (FDPS)	XP_024309838.1:p.Gly191Cys
XM_024454071.1:c.373G>T (FDPS)	XP_024309839.1:p.Gly125Cys
XM_024454072.1:c.373G>T (FDPS)	XP_024309840.1:p.Gly125Cys
XM_024454073.1:c.373G>T (FDPS)	XP_024309841.1:p.Gly125Cys
XM_024454074.1:c.373G>T (FDPS)	XP_024309842.1:p.Gly125Cys
XM_024454076.1:c.58G>T (FDPS)	XP_024309844.1:p.Gly20Cys
NM_001135821.2:c.571G>T (FDPS)	NP_001129293.1:p.Gly191Cys
NM_001135822.2:c.373G>T (FDPS)	NP_001129294.1:p.Gly125Cys
NM_001242824.2:c.373G>T (FDPS)	NP_001229753.1:p.Gly125Cys
NM_002004.4:c.571G>T (FDPS) MANE Select	NP_001995.1:p.Gly191Cys
NM_001242825.2:c.58G>T (FDPS)	NP_001229754.1:p.Gly20Cys
NM_001378424.1:c.373G>T (FDPS)	NP_001365353.1:p.Gly125Cys
NM_001378425.1:c.373G>T (FDPS)	NP_001365354.1:p.Gly125Cys