Canonical Allele Identifier: CA7963345

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603640C>T , CM000678.2:g.23603640C>T	GRCh38
NC_000016.9:g.23614961C>T , CM000678.1:g.23614961C>T	GRCh37
NC_000016.8:g.23522462C>T	NCBI36
NG_007406.1:g.42718G>A , LRG_308:g.42718G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.3380G>A MANE Select	NP_078951.2:p.Cys1127Tyr
ENST00000261584.9:c.3380G>A MANE Select	ENSP00000261584.4:p.Cys1127Tyr
NM_024675.3:c.3380G>A , LRG_308t1:c.3380G>A	NP_078951.2:p.Cys1127Tyr
ENST00000261584.8:c.3380G>A	ENSP00000261584.4:p.Cys1127Tyr
ENST00000561514.2:c.2495G>A	ENSP00000460666.2:p.Cys832Tyr
ENST00000561514.3:c.3386G>A	ENSP00000460666.3:p.Cys1129Tyr
ENST00000565038.2:c.*865G>A	ENSP00000459882.2:n.*865G>A
ENST00000566069.5:c.146G>A
ENST00000566069.6:c.*15G>A	ENSP00000459237.2:n.*15G>A
ENST00000568219.5:c.2495G>A	ENSP00000454703.2:p.Cys832Tyr
ENST00000697374.1:c.2495G>A	ENSP00000513284.1:p.Cys832Tyr
ENST00000697375.1:n.4727G>A
ENST00000697376.1:c.*15G>A	ENSP00000513285.1:n.*15G>A
ENST00000697377.1:c.2333G>A	ENSP00000513286.1:p.Cys778Tyr
ENST00000697377.2:c.3224G>A	ENSP00000513286.2:p.Cys1075Tyr
ENST00000697378.1:n.3900G>A
ENST00000697379.1:c.2495G>A	ENSP00000513287.1:p.Cys832Tyr
ENST00000697379.2:c.3386G>A	ENSP00000513287.2:p.Cys1129Tyr
ENST00000697380.1:n.2584G>A
ENST00000697381.1:n.2075G>A
ENST00000697382.1:c.*157G>A	ENSP00000513288.1:n.*157G>A
ENST00000697383.1:c.914G>A	ENSP00000513289.1:p.Cys305Tyr
XM_011545946.1:c.3386G>A	XP_011544248.1:p.Cys1129Tyr
XM_011545946.2:c.3386G>A	XP_011544248.1:p.Cys1129Tyr
XM_011545947.1:c.*15G>A	XP_011544249.1:n.*15G>A
XM_011545947.2:c.*15G>A	XP_011544249.1:n.*15G>A
XM_011545948.1:c.2495G>A	XP_011544250.1:p.Cys832Tyr
XM_011545948.2:c.2495G>A	XP_011544250.1:p.Cys832Tyr
XM_017023671.1:c.3149G>A	XP_016879160.1:p.Cys1050Tyr
XM_017023672.2:c.3143G>A	XP_016879161.1:p.Cys1048Tyr
XM_017023673.2:c.*15G>A	XP_016879162.1:n.*15G>A
XR_950851.1:n.4088G>A