Canonical Allele Identifier: CA395145267

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624094C>T , CM000678.2:g.23624094C>T	GRCh38
NC_000016.9:g.23635415C>T , CM000678.1:g.23635415C>T	GRCh37
NC_000016.8:g.23542916C>T	NCBI36
NG_007406.1:g.22264G>A , LRG_308:g.22264G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.2749G>A MANE Select	NP_078951.2:p.Val917Ile
ENST00000261584.9:c.2749G>A MANE Select	ENSP00000261584.4:p.Val917Ile
NM_024675.3:c.2749G>A , LRG_308t1:c.2749G>A	NP_078951.2:p.Val917Ile
ENST00000261584.8:c.2749G>A	ENSP00000261584.4:p.Val917Ile
ENST00000561514.2:c.1864G>A	ENSP00000460666.2:p.Val622Ile
ENST00000561514.3:c.2755G>A	ENSP00000460666.3:p.Val919Ile
ENST00000565038.1:c.321G>A
ENST00000565038.2:c.*230G>A	ENSP00000459882.2:n.*230G>A
ENST00000566069.6:c.2749G>A	ENSP00000459237.2:p.Val917Ile
ENST00000568219.5:c.1864G>A	ENSP00000454703.2:p.Val622Ile
ENST00000697374.1:c.1864G>A	ENSP00000513284.1:p.Val622Ile
ENST00000697375.1:n.4096G>A
ENST00000697376.1:c.1864G>A	ENSP00000513285.1:p.Val622Ile
ENST00000697377.1:c.1702G>A	ENSP00000513286.1:p.Val568Ile
ENST00000697377.2:c.2593G>A	ENSP00000513286.2:p.Val865Ile
ENST00000697378.1:n.3269G>A
ENST00000697379.1:c.1864G>A	ENSP00000513287.1:p.Val622Ile
ENST00000697379.2:c.2755G>A	ENSP00000513287.2:p.Val919Ile
ENST00000697380.1:n.2041G>A
ENST00000697381.1:n.1444G>A
ENST00000697382.1:c.1864G>A	ENSP00000513288.1:p.Val622Ile
ENST00000697383.1:c.283G>A	ENSP00000513289.1:p.Val95Ile
XM_011545946.1:c.2755G>A	XP_011544248.1:p.Val919Ile
XM_011545946.2:c.2755G>A	XP_011544248.1:p.Val919Ile
XM_011545947.1:c.2755G>A	XP_011544249.1:p.Val919Ile
XM_011545947.2:c.2755G>A	XP_011544249.1:p.Val919Ile
XM_011545948.1:c.1864G>A	XP_011544250.1:p.Val622Ile
XM_011545948.2:c.1864G>A	XP_011544250.1:p.Val622Ile
XM_017023671.1:c.2755G>A	XP_016879160.1:p.Val919Ile
XM_017023672.2:c.2749G>A	XP_016879161.1:p.Val917Ile
XM_017023673.2:c.2749G>A	XP_016879162.1:p.Val917Ile
XR_950851.1:n.3545G>A