Canonical Allele Identifier: CA395137833

Gene: PALB2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603497G>A , CM000678.2:g.23603497G>A	GRCh38
NC_000016.9:g.23614818G>A , CM000678.1:g.23614818G>A	GRCh37
NC_000016.8:g.23522319G>A	NCBI36
NG_007406.1:g.42861C>T , LRG_308:g.42861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3529C>T	ENSP00000460666.3:p.Gln1177Ter
ENST00000565038.2:c.*1008C>T	ENSP00000459882.2:n.*1008C>T
ENST00000566069.6:c.*158C>T	ENSP00000459237.2:n.*158C>T
ENST00000697377.2:c.3367C>T	ENSP00000513286.2:p.Gln1123Ter
ENST00000697379.2:c.3529C>T	ENSP00000513287.2:p.Gln1177Ter
ENST00000561514.2:c.2638C>T	ENSP00000460666.2:p.Gln880Ter
ENST00000697374.1:c.2638C>T	ENSP00000513284.1:p.Gln880Ter
ENST00000697375.1:n.4870C>T
ENST00000697376.1:c.*158C>T	ENSP00000513285.1:n.*158C>T
ENST00000697377.1:c.2476C>T	ENSP00000513286.1:p.Gln826Ter
ENST00000697378.1:n.4043C>T
ENST00000697379.1:c.2638C>T	ENSP00000513287.1:p.Gln880Ter
ENST00000697380.1:n.2727C>T
ENST00000697381.1:n.2218C>T
ENST00000697382.1:c.*300C>T	ENSP00000513288.1:n.*300C>T
ENST00000697383.1:c.1057C>T	ENSP00000513289.1:p.Gln353Ter
ENST00000261584.9:c.3523C>T MANE Select	ENSP00000261584.4:p.Gln1175Ter
ENST00000261584.8:c.3523C>T	ENSP00000261584.4:p.Gln1175Ter
ENST00000566069.5:c.289C>T
ENST00000568219.5:c.2638C>T	ENSP00000454703.2:p.Gln880Ter
NM_024675.3:c.3523C>T , LRG_308t1:c.3523C>T	NP_078951.2:p.Gln1175Ter
XM_011545946.1:c.3529C>T	XP_011544248.1:p.Gln1177Ter
XM_011545947.1:c.*158C>T	XP_011544249.1:n.*158C>T
XM_011545948.1:c.2638C>T	XP_011544250.1:p.Gln880Ter
XR_950851.1:n.4231C>T
XM_011545946.2:c.3529C>T	XP_011544248.1:p.Gln1177Ter
XM_011545947.2:c.*158C>T	XP_011544249.1:n.*158C>T
XM_011545948.2:c.2638C>T	XP_011544250.1:p.Gln880Ter
XM_017023671.1:c.3292C>T	XP_016879160.1:p.Gln1098Ter
XM_017023672.2:c.3286C>T	XP_016879161.1:p.Gln1096Ter
XM_017023673.2:c.*158C>T	XP_016879162.1:n.*158C>T
NM_024675.4:c.3523C>T MANE Select	NP_078951.2:p.Gln1175Ter