Canonical Allele Identifier: CA395138023
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603550T>A , CM000678.2:g.23603550T>A GRCh38
NC_000016.9:g.23614871T>A , CM000678.1:g.23614871T>A GRCh37
NC_000016.8:g.23522372T>A NCBI36
NG_007406.1:g.42808A>T , LRG_308:g.42808A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3476A>T ENSP00000460666.3:p.Gln1159Leu
ENST00000565038.2:c.*955A>T ENSP00000459882.2:n.*955A>T
ENST00000566069.6:c.*105A>T ENSP00000459237.2:n.*105A>T
ENST00000697377.2:c.3314A>T ENSP00000513286.2:p.Gln1105Leu
ENST00000697379.2:c.3476A>T ENSP00000513287.2:p.Gln1159Leu
ENST00000561514.2:c.2585A>T ENSP00000460666.2:p.Gln862Leu
ENST00000697374.1:c.2585A>T ENSP00000513284.1:p.Gln862Leu
ENST00000697375.1:n.4817A>T
ENST00000697376.1:c.*105A>T ENSP00000513285.1:n.*105A>T
ENST00000697377.1:c.2423A>T ENSP00000513286.1:p.Gln808Leu
ENST00000697378.1:n.3990A>T
ENST00000697379.1:c.2585A>T ENSP00000513287.1:p.Gln862Leu
ENST00000697380.1:n.2674A>T
ENST00000697381.1:n.2165A>T
ENST00000697382.1:c.*247A>T ENSP00000513288.1:n.*247A>T
ENST00000697383.1:c.1004A>T ENSP00000513289.1:p.Gln335Leu
ENST00000261584.9:c.3470A>T MANE Select ENSP00000261584.4:p.Gln1157Leu
ENST00000261584.8:c.3470A>T ENSP00000261584.4:p.Gln1157Leu
ENST00000566069.5:c.236A>T
ENST00000568219.5:c.2585A>T ENSP00000454703.2:p.Gln862Leu
NM_024675.3:c.3470A>T , LRG_308t1:c.3470A>T NP_078951.2:p.Gln1157Leu
XM_011545946.1:c.3476A>T XP_011544248.1:p.Gln1159Leu
XM_011545947.1:c.*105A>T XP_011544249.1:n.*105A>T
XM_011545948.1:c.2585A>T XP_011544250.1:p.Gln862Leu
XR_950851.1:n.4178A>T
XM_011545946.2:c.3476A>T XP_011544248.1:p.Gln1159Leu
XM_011545947.2:c.*105A>T XP_011544249.1:n.*105A>T
XM_011545948.2:c.2585A>T XP_011544250.1:p.Gln862Leu
XM_017023671.1:c.3239A>T XP_016879160.1:p.Gln1080Leu
XM_017023672.2:c.3233A>T XP_016879161.1:p.Gln1078Leu
XM_017023673.2:c.*105A>T XP_016879162.1:n.*105A>T
NM_024675.4:c.3470A>T MANE Select NP_078951.2:p.Gln1157Leu