Canonical Allele Identifier: CA372949491
Community Standard Title: NM_001378778.1(MPDZ):c.3985G>A (p.Glu1329Lys)
Gene: MPDZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.13140005C>T , CM000671.2:g.13140005C>T GRCh38
NC_000009.11:g.13140004C>T , CM000671.1:g.13140004C>T GRCh37
NC_000009.10:g.13130004C>T NCBI36
NG_042810.1:g.144560G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001378778.1:c.3985G>A MANE Select NP_001365707.1:p.Glu1329Lys
ENST00000319217.12:c.3985G>A MANE Select ENSP00000320006.7:p.Glu1329Lys
NM_001261406.1:c.3886G>A NP_001248335.1:p.Glu1296Lys
NM_001261406.2:c.3886G>A NP_001248335.1:p.Glu1296Lys
NM_001261407.1:c.3886G>A NP_001248336.1:p.Glu1296Lys
NM_001261407.2:c.3886G>A NP_001248336.1:p.Glu1296Lys
NM_001330637.1:c.3985G>A NP_001317566.1:p.Glu1329Lys
NM_001330637.2:c.3985G>A NP_001317566.1:p.Glu1329Lys
NM_001375413.1:c.3985G>A NP_001362342.1:p.Glu1329Lys
NM_001375416.1:c.3886G>A NP_001362345.1:p.Glu1296Lys
NM_001375417.1:c.3886G>A NP_001362346.1:p.Glu1296Lys
NM_001375418.1:c.3886G>A NP_001362347.1:p.Glu1296Lys
NM_001375419.1:c.3886G>A NP_001362348.1:p.Glu1296Lys
NM_001375420.1:c.3775G>A NP_001362349.1:p.Glu1259Lys
NM_001375421.1:c.3775G>A NP_001362350.1:p.Glu1259Lys
NM_001375422.1:c.3775G>A NP_001362351.1:p.Glu1259Lys
NM_001375423.1:c.3775G>A NP_001362352.1:p.Glu1259Lys
NM_001375424.1:c.3775G>A NP_001362353.1:p.Glu1259Lys
NM_001375425.1:c.3775G>A NP_001362354.1:p.Glu1259Lys
NM_001375426.1:c.3775G>A NP_001362355.1:p.Glu1259Lys
NM_001375427.1:c.3577G>A NP_001362356.1:p.Glu1193Lys
NM_003829.4:c.3985G>A NP_003820.2:p.Glu1329Lys
NM_003829.5:c.3985G>A NP_003820.2:p.Glu1329Lys
ENST00000319198.10:n.485G>A
ENST00000319217.11:c.3985G>A ENSP00000320006.7:p.Glu1329Lys
ENST00000381022.6:c.3886G>A ENSP00000370410.3:p.Glu1296Lys
ENST00000433359.6:c.451G>A ENSP00000389705.2:p.Glu151Lys
ENST00000447879.5:c.3886G>A ENSP00000415208.1:p.Glu1296Lys
ENST00000447879.6:c.3886G>A ENSP00000415208.1:p.Glu1296Lys
ENST00000535169.1:c.66G>A
ENST00000536827.5:c.3886G>A ENSP00000444151.1:p.Glu1296Lys
ENST00000538841.5:c.562G>A ENSP00000444717.1:p.Glu188Lys
ENST00000539508.5:n.1685G>A
ENST00000540202.1:n.246G>A
ENST00000541718.5:c.3985G>A ENSP00000439807.1:p.Glu1329Lys
ENST00000542806.5:c.41G>A
ENST00000545857.5:c.793G>A ENSP00000444230.1:p.Glu265Lys
ENST00000546205.5:c.4027G>A ENSP00000446358.1:p.Glu1343Lys
XM_005251622.3:c.3985G>A XP_005251679.1:p.Glu1329Lys
XM_005251623.3:c.3775G>A XP_005251680.1:p.Glu1259Lys
XM_005251623.4:c.3775G>A XP_005251680.1:p.Glu1259Lys
XM_006716885.2:c.3985G>A XP_006716948.1:p.Glu1329Lys
XM_006716885.3:c.3985G>A XP_006716948.1:p.Glu1329Lys
XM_006716886.2:c.3985G>A XP_006716949.1:p.Glu1329Lys
XM_006716886.3:c.3985G>A XP_006716949.1:p.Glu1329Lys
XM_006716887.2:c.3985G>A XP_006716950.1:p.Glu1329Lys
XM_006716887.4:c.3985G>A XP_006716950.1:p.Glu1329Lys
XM_006716888.2:c.3985G>A XP_006716951.1:p.Glu1329Lys
XM_006716888.3:c.3985G>A XP_006716951.1:p.Glu1329Lys
XM_006716889.2:c.3886G>A XP_006716952.1:p.Glu1296Lys
XM_006716889.3:c.3886G>A XP_006716952.1:p.Glu1296Lys
XM_006716890.2:c.3868G>A XP_006716953.1:p.Glu1290Lys
XM_006716891.2:c.3886G>A XP_006716954.1:p.Glu1296Lys
XM_006716891.3:c.3886G>A XP_006716954.1:p.Glu1296Lys
XM_017015252.1:c.3985G>A XP_016870741.1:p.Glu1329Lys
XM_017015253.1:c.3886G>A XP_016870742.1:p.Glu1296Lys
XM_017015254.1:c.3775G>A XP_016870743.1:p.Glu1259Lys
XM_017015255.1:c.3775G>A XP_016870744.1:p.Glu1259Lys
XM_017015256.1:c.3775G>A XP_016870745.1:p.Glu1259Lys
XM_017015257.1:c.3775G>A XP_016870746.1:p.Glu1259Lys
XM_017015258.1:c.3985G>A XP_016870747.1:p.Glu1329Lys
XM_024447708.1:c.3985G>A XP_024303476.1:p.Glu1329Lys
XR_002956817.1:n.4057G>A