Canonical Allele Identifier: CA7963720
Community Standard Title: NM_024675.4(PALB2):c.1315G>A (p.Gly439Arg)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635231C>T , CM000678.2:g.23635231C>T GRCh38
NC_000016.9:g.23646552C>T , CM000678.1:g.23646552C>T GRCh37
NC_000016.8:g.23554053C>T NCBI36
NG_007406.1:g.11127G>A , LRG_308:g.11127G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.1315G>A MANE Select NP_078951.2:p.Gly439Arg
ENST00000261584.9:c.1315G>A MANE Select ENSP00000261584.4:p.Gly439Arg
NM_024675.3:c.1315G>A , LRG_308t1:c.1315G>A NP_078951.2:p.Gly439Arg
ENST00000261584.8:c.1315G>A ENSP00000261584.4:p.Gly439Arg
ENST00000561514.2:c.430G>A ENSP00000460666.2:p.Gly144Arg
ENST00000561514.3:c.1321G>A ENSP00000460666.3:p.Gly441Arg
ENST00000565038.1:c.86+2619G>A
ENST00000565038.2:c.211+2619G>A ENSP00000459882.2:n.211+2619G>A
ENST00000566069.6:c.1315G>A ENSP00000459237.2:p.Gly439Arg
ENST00000568219.5:c.430G>A ENSP00000454703.2:p.Gly144Arg
ENST00000697374.1:c.430G>A ENSP00000513284.1:p.Gly144Arg
ENST00000697375.1:n.2662G>A
ENST00000697376.1:c.430G>A ENSP00000513285.1:p.Gly144Arg
ENST00000697377.1:c.430G>A ENSP00000513286.1:p.Gly144Arg
ENST00000697377.2:c.1321G>A ENSP00000513286.2:p.Gly441Arg
ENST00000697378.1:n.1835G>A
ENST00000697379.1:c.430G>A ENSP00000513287.1:p.Gly144Arg
ENST00000697379.2:c.1321G>A ENSP00000513287.2:p.Gly441Arg
ENST00000697382.1:c.430G>A ENSP00000513288.1:p.Gly144Arg
ENST00000697383.1:c.48+5879G>A ENSP00000513289.1:n.48+5879G>A
ENST00000697384.1:n.1469G>A
XM_011545946.1:c.1321G>A XP_011544248.1:p.Gly441Arg
XM_011545946.2:c.1321G>A XP_011544248.1:p.Gly441Arg
XM_011545947.1:c.1321G>A XP_011544249.1:p.Gly441Arg
XM_011545947.2:c.1321G>A XP_011544249.1:p.Gly441Arg
XM_011545948.1:c.430G>A XP_011544250.1:p.Gly144Arg
XM_011545948.2:c.430G>A XP_011544250.1:p.Gly144Arg
XM_017023671.1:c.1321G>A XP_016879160.1:p.Gly441Arg
XM_017023672.2:c.1315G>A XP_016879161.1:p.Gly439Arg
XM_017023673.2:c.1315G>A XP_016879162.1:p.Gly439Arg
XR_950851.1:n.2111G>A