Canonical Allele Identifier: CA395138282

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1352446
• ClinVar RCV Id: RCV002047606
• dbSNP Id: rs1966404823
• MyVariant Identifiers: chr16:g.23614956C>T (hg19) ; chr16:g.23603635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603635C>T , CM000678.2:g.23603635C>T	GRCh38
NC_000016.9:g.23614956C>T , CM000678.1:g.23614956C>T	GRCh37
NC_000016.8:g.23522457C>T	NCBI36
NG_007406.1:g.42723G>A , LRG_308:g.42723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3391G>A	ENSP00000460666.3:p.Ala1131Thr
ENST00000565038.2:c.*870G>A	ENSP00000459882.2:n.*870G>A
ENST00000566069.6:c.*20G>A	ENSP00000459237.2:n.*20G>A
ENST00000697377.2:c.3229G>A	ENSP00000513286.2:p.Ala1077Thr
ENST00000697379.2:c.3391G>A	ENSP00000513287.2:p.Ala1131Thr
ENST00000561514.2:c.2500G>A	ENSP00000460666.2:p.Ala834Thr
ENST00000697374.1:c.2500G>A	ENSP00000513284.1:p.Ala834Thr
ENST00000697375.1:n.4732G>A
ENST00000697376.1:c.*20G>A	ENSP00000513285.1:n.*20G>A
ENST00000697377.1:c.2338G>A	ENSP00000513286.1:p.Ala780Thr
ENST00000697378.1:n.3905G>A
ENST00000697379.1:c.2500G>A	ENSP00000513287.1:p.Ala834Thr
ENST00000697380.1:n.2589G>A
ENST00000697381.1:n.2080G>A
ENST00000697382.1:c.*162G>A	ENSP00000513288.1:n.*162G>A
ENST00000697383.1:c.919G>A	ENSP00000513289.1:p.Ala307Thr
ENST00000261584.9:c.3385G>A MANE Select	ENSP00000261584.4:p.Ala1129Thr
ENST00000261584.8:c.3385G>A	ENSP00000261584.4:p.Ala1129Thr
ENST00000566069.5:c.151G>A
ENST00000568219.5:c.2500G>A	ENSP00000454703.2:p.Ala834Thr
NM_024675.3:c.3385G>A , LRG_308t1:c.3385G>A	NP_078951.2:p.Ala1129Thr
XM_011545946.1:c.3391G>A	XP_011544248.1:p.Ala1131Thr
XM_011545947.1:c.*20G>A	XP_011544249.1:n.*20G>A
XM_011545948.1:c.2500G>A	XP_011544250.1:p.Ala834Thr
XR_950851.1:n.4093G>A
XM_011545946.2:c.3391G>A	XP_011544248.1:p.Ala1131Thr
XM_011545947.2:c.*20G>A	XP_011544249.1:n.*20G>A
XM_011545948.2:c.2500G>A	XP_011544250.1:p.Ala834Thr
XM_017023671.1:c.3154G>A	XP_016879160.1:p.Ala1052Thr
XM_017023672.2:c.3148G>A	XP_016879161.1:p.Ala1050Thr
XM_017023673.2:c.*20G>A	XP_016879162.1:n.*20G>A
NM_024675.4:c.3385G>A MANE Select	NP_078951.2:p.Ala1129Thr