Canonical Allele Identifier: CA395143052
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 968978
ClinVar RCV Id: RCV001244222
dbSNP Id: rs1966771258

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621435G>T , CM000678.2:g.23621435G>T GRCh38
NC_000016.9:g.23632756G>T , CM000678.1:g.23632756G>T GRCh37
NC_000016.8:g.23540257G>T NCBI36
NG_007406.1:g.24923C>A , LRG_308:g.24923C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3046C>A ENSP00000460666.3:p.Leu1016Ile
ENST00000565038.2:c.*521C>A ENSP00000459882.2:n.*521C>A
ENST00000566069.6:c.3040C>A ENSP00000459237.2:p.Leu1014Ile
ENST00000697377.2:c.2884C>A ENSP00000513286.2:p.Leu962Ile
ENST00000697379.2:c.3046C>A ENSP00000513287.2:p.Leu1016Ile
ENST00000561514.2:c.2155C>A ENSP00000460666.2:p.Leu719Ile
ENST00000697374.1:c.2155C>A ENSP00000513284.1:p.Leu719Ile
ENST00000697375.1:n.4387C>A
ENST00000697376.1:c.2155C>A ENSP00000513285.1:p.Leu719Ile
ENST00000697377.1:c.1993C>A ENSP00000513286.1:p.Leu665Ile
ENST00000697378.1:n.3560C>A
ENST00000697379.1:c.2155C>A ENSP00000513287.1:p.Leu719Ile
ENST00000697380.1:n.2332C>A
ENST00000697381.1:n.1735C>A
ENST00000697382.1:c.2155C>A ENSP00000513288.1:p.Leu719Ile
ENST00000697383.1:c.574C>A ENSP00000513289.1:p.Leu192Ile
ENST00000261584.9:c.3040C>A MANE Select ENSP00000261584.4:p.Leu1014Ile
ENST00000261584.8:c.3040C>A ENSP00000261584.4:p.Leu1014Ile
ENST00000568219.5:c.2155C>A ENSP00000454703.2:p.Leu719Ile
NM_024675.3:c.3040C>A , LRG_308t1:c.3040C>A NP_078951.2:p.Leu1014Ile
XM_011545946.1:c.3046C>A XP_011544248.1:p.Leu1016Ile
XM_011545947.1:c.3046C>A XP_011544249.1:p.Leu1016Ile
XM_011545948.1:c.2155C>A XP_011544250.1:p.Leu719Ile
XR_950851.1:n.3836C>A
XM_011545946.2:c.3046C>A XP_011544248.1:p.Leu1016Ile
XM_011545947.2:c.3046C>A XP_011544249.1:p.Leu1016Ile
XM_011545948.2:c.2155C>A XP_011544250.1:p.Leu719Ile
XM_017023671.1:c.3046C>A XP_016879160.1:p.Leu1016Ile
XM_017023672.2:c.3040C>A XP_016879161.1:p.Leu1014Ile
XM_017023673.2:c.3040C>A XP_016879162.1:p.Leu1014Ile
NM_024675.4:c.3040C>A MANE Select NP_078951.2:p.Leu1014Ile