Canonical Allele Identifier: CA10579918

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603628A>G , CM000678.2:g.23603628A>G	GRCh38
NC_000016.9:g.23614949A>G , CM000678.1:g.23614949A>G	GRCh37
NC_000016.8:g.23522450A>G	NCBI36
NG_007406.1:g.42730T>C , LRG_308:g.42730T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3398T>C	ENSP00000460666.3:p.Ile1133Thr
ENST00000565038.2:c.*877T>C	ENSP00000459882.2:n.*877T>C
ENST00000566069.6:c.*27T>C	ENSP00000459237.2:n.*27T>C
ENST00000697377.2:c.3236T>C	ENSP00000513286.2:p.Ile1079Thr
ENST00000697379.2:c.3398T>C	ENSP00000513287.2:p.Ile1133Thr
ENST00000561514.2:c.2507T>C	ENSP00000460666.2:p.Ile836Thr
ENST00000697374.1:c.2507T>C	ENSP00000513284.1:p.Ile836Thr
ENST00000697375.1:n.4739T>C
ENST00000697376.1:c.*27T>C	ENSP00000513285.1:n.*27T>C
ENST00000697377.1:c.2345T>C	ENSP00000513286.1:p.Ile782Thr
ENST00000697378.1:n.3912T>C
ENST00000697379.1:c.2507T>C	ENSP00000513287.1:p.Ile836Thr
ENST00000697380.1:n.2596T>C
ENST00000697381.1:n.2087T>C
ENST00000697382.1:c.*169T>C	ENSP00000513288.1:n.*169T>C
ENST00000697383.1:c.926T>C	ENSP00000513289.1:p.Ile309Thr
ENST00000261584.9:c.3392T>C MANE Select	ENSP00000261584.4:p.Ile1131Thr
ENST00000261584.8:c.3392T>C	ENSP00000261584.4:p.Ile1131Thr
ENST00000566069.5:c.158T>C
ENST00000568219.5:c.2507T>C	ENSP00000454703.2:p.Ile836Thr
NM_024675.3:c.3392T>C , LRG_308t1:c.3392T>C	NP_078951.2:p.Ile1131Thr
XM_011545946.1:c.3398T>C	XP_011544248.1:p.Ile1133Thr
XM_011545947.1:c.*27T>C	XP_011544249.1:n.*27T>C
XM_011545948.1:c.2507T>C	XP_011544250.1:p.Ile836Thr
XR_950851.1:n.4100T>C
XM_011545946.2:c.3398T>C	XP_011544248.1:p.Ile1133Thr
XM_011545947.2:c.*27T>C	XP_011544249.1:n.*27T>C
XM_011545948.2:c.2507T>C	XP_011544250.1:p.Ile836Thr
XM_017023671.1:c.3161T>C	XP_016879160.1:p.Ile1054Thr
XM_017023672.2:c.3155T>C	XP_016879161.1:p.Ile1052Thr
XM_017023673.2:c.*27T>C	XP_016879162.1:n.*27T>C
NM_024675.4:c.3392T>C MANE Select	NP_078951.2:p.Ile1131Thr