Canonical Allele Identifier: CA294118

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603512G>A , CM000678.2:g.23603512G>A	GRCh38
NC_000016.9:g.23614833G>A , CM000678.1:g.23614833G>A	GRCh37
NC_000016.8:g.23522334G>A	NCBI36
NG_007406.1:g.42846C>T , LRG_308:g.42846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3514C>T	ENSP00000460666.3:p.His1172Tyr
ENST00000565038.2:c.*993C>T	ENSP00000459882.2:n.*993C>T
ENST00000566069.6:c.*143C>T	ENSP00000459237.2:n.*143C>T
ENST00000697377.2:c.3352C>T	ENSP00000513286.2:p.His1118Tyr
ENST00000697379.2:c.3514C>T	ENSP00000513287.2:p.His1172Tyr
ENST00000561514.2:c.2623C>T	ENSP00000460666.2:p.His875Tyr
ENST00000697374.1:c.2623C>T	ENSP00000513284.1:p.His875Tyr
ENST00000697375.1:n.4855C>T
ENST00000697376.1:c.*143C>T	ENSP00000513285.1:n.*143C>T
ENST00000697377.1:c.2461C>T	ENSP00000513286.1:p.His821Tyr
ENST00000697378.1:n.4028C>T
ENST00000697379.1:c.2623C>T	ENSP00000513287.1:p.His875Tyr
ENST00000697380.1:n.2712C>T
ENST00000697381.1:n.2203C>T
ENST00000697382.1:c.*285C>T	ENSP00000513288.1:n.*285C>T
ENST00000697383.1:c.1042C>T	ENSP00000513289.1:p.His348Tyr
ENST00000261584.9:c.3508C>T MANE Select	ENSP00000261584.4:p.His1170Tyr
ENST00000261584.8:c.3508C>T	ENSP00000261584.4:p.His1170Tyr
ENST00000566069.5:c.274C>T
ENST00000568219.5:c.2623C>T	ENSP00000454703.2:p.His875Tyr
NM_024675.3:c.3508C>T , LRG_308t1:c.3508C>T	NP_078951.2:p.His1170Tyr
XM_011545946.1:c.3514C>T	XP_011544248.1:p.His1172Tyr
XM_011545947.1:c.*143C>T	XP_011544249.1:n.*143C>T
XM_011545948.1:c.2623C>T	XP_011544250.1:p.His875Tyr
XR_950851.1:n.4216C>T
XM_011545946.2:c.3514C>T	XP_011544248.1:p.His1172Tyr
XM_011545947.2:c.*143C>T	XP_011544249.1:n.*143C>T
XM_011545948.2:c.2623C>T	XP_011544250.1:p.His875Tyr
XM_017023671.1:c.3277C>T	XP_016879160.1:p.His1093Tyr
XM_017023672.2:c.3271C>T	XP_016879161.1:p.His1091Tyr
XM_017023673.2:c.*143C>T	XP_016879162.1:n.*143C>T
NM_024675.4:c.3508C>T MANE Select	NP_078951.2:p.His1170Tyr