Canonical Allele Identifier: CA342762227

Gene: FDPS RUSC1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.155287973T>G (hg19) ; chr1:g.155318182T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155318182T>G , CM000663.2:g.155318182T>G	GRCh38
NC_000001.10:g.155287973T>G , CM000663.1:g.155287973T>G	GRCh37
NC_000001.9:g.153554597T>G	NCBI36
NG_045218.1:g.14435T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368356.9:c.575T>G (FDPS) MANE Select	ENSP00000357340.4:p.Leu192Trp
ENST00000356657.10:c.575T>G (FDPS)	ENSP00000349078.6:p.Leu192Trp
ENST00000368356.8:c.575T>G (FDPS)	ENSP00000357340.4:p.Leu192Trp
ENST00000447866.5:c.377T>G (FDPS)	ENSP00000391755.1:p.Leu126Trp
ENST00000461507.5:n.541T>G (FDPS)
ENST00000467076.5:c.377T>G (FDPS)	ENSP00000480142.1:p.Leu126Trp
ENST00000468479.5:n.589T>G (FDPS)
ENST00000470171.5:n.487T>G (FDPS)
ENST00000471117.5:n.339T>G (FDPS)
ENST00000474345.5:c.*252T>G (FDPS)	ENSP00000478032.1:n.*252T>G
ENST00000477057.5:n.470T>G (FDPS)
ENST00000489003.5:n.471T>G (FDPS)
ENST00000491013.5:c.575T>G (FDPS)	ENSP00000479557.1:p.Leu192Trp
ENST00000492887.5:n.8T>G (FDPS)
ENST00000495308.5:n.472T>G (FDPS)
ENST00000611010.4:c.62T>G (FDPS)	ENSP00000483188.1:p.Leu21Trp
ENST00000612683.1:c.377T>G (FDPS)	ENSP00000478235.1:p.Leu126Trp
NM_001135821.1:c.575T>G (FDPS)	NP_001129293.1:p.Leu192Trp
NM_001135822.1:c.377T>G (FDPS)	NP_001129294.1:p.Leu126Trp
NM_001242824.1:c.377T>G (FDPS)	NP_001229753.1:p.Leu126Trp
NM_001242825.1:c.62T>G (FDPS)	NP_001229754.1:p.Leu21Trp
NM_002004.3:c.575T>G (FDPS)	NP_001995.1:p.Leu192Trp
XM_005244962.1:c.377T>G (FDPS)	XP_005245019.1:p.Leu126Trp
XM_005244963.1:c.377T>G (FDPS)	XP_005245020.1:p.Leu126Trp
NR_145424.1:n.627+83A>C (RUSC1-AS1)
NR_145425.1:n.352+83A>C (RUSC1-AS1)
XM_024454066.1:c.575T>G (FDPS)	XP_024309834.1:p.Leu192Trp
XM_024454070.1:c.575T>G (FDPS)	XP_024309838.1:p.Leu192Trp
XM_024454071.1:c.377T>G (FDPS)	XP_024309839.1:p.Leu126Trp
XM_024454072.1:c.377T>G (FDPS)	XP_024309840.1:p.Leu126Trp
XM_024454073.1:c.377T>G (FDPS)	XP_024309841.1:p.Leu126Trp
XM_024454074.1:c.377T>G (FDPS)	XP_024309842.1:p.Leu126Trp
XM_024454076.1:c.62T>G (FDPS)	XP_024309844.1:p.Leu21Trp
NM_001135821.2:c.575T>G (FDPS)	NP_001129293.1:p.Leu192Trp
NM_001135822.2:c.377T>G (FDPS)	NP_001129294.1:p.Leu126Trp
NM_001242824.2:c.377T>G (FDPS)	NP_001229753.1:p.Leu126Trp
NM_002004.4:c.575T>G (FDPS) MANE Select	NP_001995.1:p.Leu192Trp
NM_001242825.2:c.62T>G (FDPS)	NP_001229754.1:p.Leu21Trp
NM_001378424.1:c.377T>G (FDPS)	NP_001365353.1:p.Leu126Trp
NM_001378425.1:c.377T>G (FDPS)	NP_001365354.1:p.Leu126Trp