Canonical Allele Identifier: CA342762442

Gene: FDPS RUSC1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.155288075T>C (hg19) ; chr1:g.155318284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155318284T>C , CM000663.2:g.155318284T>C	GRCh38
NC_000001.10:g.155288075T>C , CM000663.1:g.155288075T>C	GRCh37
NC_000001.9:g.153554699T>C	NCBI36
NG_045218.1:g.14537T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368356.9:c.677T>C (FDPS) MANE Select	ENSP00000357340.4:p.Phe226Ser
ENST00000356657.10:c.677T>C (FDPS)	ENSP00000349078.6:p.Phe226Ser
ENST00000368356.8:c.677T>C (FDPS)	ENSP00000357340.4:p.Phe226Ser
ENST00000447866.5:c.479T>C (FDPS)	ENSP00000391755.1:p.Phe160Ser
ENST00000461507.5:n.643T>C (FDPS)
ENST00000467076.5:c.479T>C (FDPS)	ENSP00000480142.1:p.Phe160Ser
ENST00000468479.5:n.691T>C (FDPS)
ENST00000470171.5:n.589T>C (FDPS)
ENST00000471117.5:n.441T>C (FDPS)
ENST00000474345.5:c.*354T>C (FDPS)	ENSP00000478032.1:n.*354T>C
ENST00000477057.5:n.572T>C (FDPS)
ENST00000489003.5:n.573T>C (FDPS)
ENST00000491013.5:c.677T>C (FDPS)	ENSP00000479557.1:p.Phe226Ser
ENST00000492244.5:n.97T>C (FDPS)
ENST00000492887.5:n.110T>C (FDPS)
ENST00000495308.5:n.574T>C (FDPS)
ENST00000611010.4:c.164T>C (FDPS)	ENSP00000483188.1:p.Phe55Ser
ENST00000612683.1:c.479T>C (FDPS)	ENSP00000478235.1:p.Phe160Ser
NM_001135821.1:c.677T>C (FDPS)	NP_001129293.1:p.Phe226Ser
NM_001135822.1:c.479T>C (FDPS)	NP_001129294.1:p.Phe160Ser
NM_001242824.1:c.479T>C (FDPS)	NP_001229753.1:p.Phe160Ser
NM_001242825.1:c.164T>C (FDPS)	NP_001229754.1:p.Phe55Ser
NM_002004.3:c.677T>C (FDPS)	NP_001995.1:p.Phe226Ser
XM_005244962.1:c.479T>C (FDPS)	XP_005245019.1:p.Phe160Ser
XM_005244963.1:c.479T>C (FDPS)	XP_005245020.1:p.Phe160Ser
NR_145424.1:n.608A>G (RUSC1-AS1)
NR_145425.1:n.333A>G (RUSC1-AS1)
XM_024454066.1:c.677T>C (FDPS)	XP_024309834.1:p.Phe226Ser
XM_024454070.1:c.677T>C (FDPS)	XP_024309838.1:p.Phe226Ser
XM_024454071.1:c.479T>C (FDPS)	XP_024309839.1:p.Phe160Ser
XM_024454072.1:c.479T>C (FDPS)	XP_024309840.1:p.Phe160Ser
XM_024454073.1:c.479T>C (FDPS)	XP_024309841.1:p.Phe160Ser
XM_024454074.1:c.479T>C (FDPS)	XP_024309842.1:p.Phe160Ser
XM_024454076.1:c.164T>C (FDPS)	XP_024309844.1:p.Phe55Ser
NM_001135821.2:c.677T>C (FDPS)	NP_001129293.1:p.Phe226Ser
NM_001135822.2:c.479T>C (FDPS)	NP_001129294.1:p.Phe160Ser
NM_001242824.2:c.479T>C (FDPS)	NP_001229753.1:p.Phe160Ser
NM_002004.4:c.677T>C (FDPS) MANE Select	NP_001995.1:p.Phe226Ser
NM_001242825.2:c.164T>C (FDPS)	NP_001229754.1:p.Phe55Ser
NM_001378424.1:c.479T>C (FDPS)	NP_001365353.1:p.Phe160Ser
NM_001378425.1:c.479T>C (FDPS)	NP_001365354.1:p.Phe160Ser