Canonical Allele Identifier: CA342761472

Gene: FDPS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155310106G>C , CM000663.2:g.155310106G>C	GRCh38
NC_000001.10:g.155279897G>C , CM000663.1:g.155279897G>C	GRCh37
NC_000001.9:g.153546521G>C	NCBI36
NG_045218.1:g.6359G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002004.4:c.240G>C MANE Select	NP_001995.1:p.Lys80Asn
ENST00000368356.9:c.240G>C MANE Select	ENSP00000357340.4:p.Lys80Asn
NM_001135821.1:c.240G>C	NP_001129293.1:p.Lys80Asn
NM_001135821.2:c.240G>C	NP_001129293.1:p.Lys80Asn
NM_001135822.1:c.42G>C	NP_001129294.1:p.Lys14Asn
NM_001135822.2:c.42G>C	NP_001129294.1:p.Lys14Asn
NM_001242824.1:c.42G>C	NP_001229753.1:p.Lys14Asn
NM_001242824.2:c.42G>C	NP_001229753.1:p.Lys14Asn
NM_001242825.1:c.-175+1141G>C	NP_001229754.1:n.-175+1141G>C
NM_001242825.2:c.-175+1141G>C	NP_001229754.1:n.-175+1141G>C
NM_001378424.1:c.42G>C	NP_001365353.1:p.Lys14Asn
NM_001378425.1:c.42G>C	NP_001365354.1:p.Lys14Asn
NM_002004.3:c.240G>C	NP_001995.1:p.Lys80Asn
ENST00000356657.10:c.240G>C	ENSP00000349078.6:p.Lys80Asn
ENST00000368356.8:c.240G>C	ENSP00000357340.4:p.Lys80Asn
ENST00000447866.5:c.42G>C	ENSP00000391755.1:p.Lys14Asn
ENST00000461507.5:n.206G>C
ENST00000465559.5:c.240G>C	ENSP00000484099.1:p.Lys80Asn
ENST00000467076.5:c.42G>C	ENSP00000480142.1:p.Lys14Asn
ENST00000468479.5:n.254G>C
ENST00000470171.5:n.152G>C
ENST00000471117.5:n.103+1141G>C
ENST00000474345.5:c.42G>C	ENSP00000478032.1:p.Lys14Asn
ENST00000477057.5:n.135G>C
ENST00000487002.1:n.1193G>C
ENST00000489003.5:n.136G>C
ENST00000491013.5:c.240G>C	ENSP00000479557.1:p.Lys80Asn
ENST00000495308.5:n.137G>C
ENST00000611010.4:c.-175+1141G>C	ENSP00000483188.1:n.-175+1141G>C
ENST00000612683.1:c.42G>C	ENSP00000478235.1:p.Lys14Asn
XM_005244962.1:c.42G>C	XP_005245019.1:p.Lys14Asn
XM_005244963.1:c.42G>C	XP_005245020.1:p.Lys14Asn
XM_024454066.1:c.240G>C	XP_024309834.1:p.Lys80Asn
XM_024454070.1:c.240G>C	XP_024309838.1:p.Lys80Asn
XM_024454071.1:c.42G>C	XP_024309839.1:p.Lys14Asn
XM_024454072.1:c.42G>C	XP_024309840.1:p.Lys14Asn
XM_024454073.1:c.42G>C	XP_024309841.1:p.Lys14Asn
XM_024454074.1:c.42G>C	XP_024309842.1:p.Lys14Asn
XM_024454076.1:c.-175+1141G>C	XP_024309844.1:n.-175+1141G>C