Canonical Allele Identifier: CA249944

Gene: PDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70142278G>T , CM000678.2:g.70142278G>T	GRCh38
NC_000016.9:g.70176181G>T , CM000678.1:g.70176181G>T	GRCh37
NC_000016.8:g.68733682G>T	NCBI36
NG_052842.1:g.33653G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017990.5:c.1360G>T MANE Select	NP_060460.4:p.Gly454Cys
ENST00000288050.9:c.1360G>T MANE Select	ENSP00000288050.5:p.Gly454Cys
NM_001322117.1:c.1360G>T	NP_001309046.1:p.Gly454Cys
NM_001322118.1:c.1060G>T	NP_001309047.1:p.Gly354Cys
NM_001322119.1:c.154G>T	NP_001309048.1:p.Gly52Cys
NM_017990.3:c.1360G>T	NP_060460.4:p.Gly454Cys
NM_017990.4:c.1360G>T	NP_060460.4:p.Gly454Cys
ENST00000288050.8:c.1360G>T	ENSP00000288050.4:p.Gly454Cys
ENST00000398122.7:c.1060G>T	ENSP00000381190.3:p.Gly354Cys
ENST00000561920.5:n.1464G>T
ENST00000562100.5:n.566G>T
ENST00000565186.5:c.1360G>T	ENSP00000455764.1:p.Gly454Cys
ENST00000568530.5:c.1360G>T	ENSP00000457916.1:p.Gly454Cys
XM_005256015.2:c.1360G>T	XP_005256072.1:p.Gly454Cys
XM_005256016.2:c.1360G>T	XP_005256073.1:p.Gly454Cys
XM_005256016.3:c.1360G>T	XP_005256073.1:p.Gly454Cys
XM_005256019.2:c.544G>T	XP_005256076.1:p.Gly182Cys
XM_006721224.2:c.1360G>T	XP_006721287.1:p.Gly454Cys
XM_006721225.2:c.1120G>T	XP_006721288.1:p.Gly374Cys
XM_006721225.3:c.1120G>T	XP_006721288.1:p.Gly374Cys
XM_006721226.1:c.703G>T	XP_006721289.1:p.Gly235Cys
XM_011523190.1:c.1360G>T	XP_011521492.1:p.Gly454Cys
XM_011523190.3:c.1360G>T	XP_011521492.1:p.Gly454Cys
XM_017023387.1:c.1360G>T	XP_016878876.1:p.Gly454Cys
XM_017023388.2:c.1360G>T	XP_016878877.1:p.Gly454Cys
XM_017023389.1:c.544G>T	XP_016878878.1:p.Gly182Cys
XR_001751949.1:n.1967G>T
XR_001751950.1:n.1967G>T
XR_429721.2:n.1967G>T
XR_933363.1:n.1967G>T