Canonical Allele Identifier: CA395138392

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614982T>A (hg19) ; chr16:g.23603661T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603661T>A , CM000678.2:g.23603661T>A	GRCh38
NC_000016.9:g.23614982T>A , CM000678.1:g.23614982T>A	GRCh37
NC_000016.8:g.23522483T>A	NCBI36
NG_007406.1:g.42697A>T , LRG_308:g.42697A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3365A>T	ENSP00000460666.3:p.Glu1122Val
ENST00000565038.2:c.*844A>T	ENSP00000459882.2:n.*844A>T
ENST00000566069.6:c.3210A>T	ENSP00000459237.2:p.Gly1070=
ENST00000697377.2:c.3203A>T	ENSP00000513286.2:p.Glu1068Val
ENST00000697379.2:c.3365A>T	ENSP00000513287.2:p.Glu1122Val
ENST00000561514.2:c.2474A>T	ENSP00000460666.2:p.Glu825Val
ENST00000697374.1:c.2474A>T	ENSP00000513284.1:p.Glu825Val
ENST00000697375.1:n.4706A>T
ENST00000697376.1:c.2325A>T	ENSP00000513285.1:p.Gly775=
ENST00000697377.1:c.2312A>T	ENSP00000513286.1:p.Glu771Val
ENST00000697378.1:n.3879A>T
ENST00000697379.1:c.2474A>T	ENSP00000513287.1:p.Glu825Val
ENST00000697380.1:n.2563A>T
ENST00000697381.1:n.2054A>T
ENST00000697382.1:c.*136A>T	ENSP00000513288.1:n.*136A>T
ENST00000697383.1:c.893A>T	ENSP00000513289.1:p.Glu298Val
ENST00000261584.9:c.3359A>T MANE Select	ENSP00000261584.4:p.Glu1120Val
ENST00000261584.8:c.3359A>T	ENSP00000261584.4:p.Glu1120Val
ENST00000566069.5:c.125A>T
ENST00000568219.5:c.2474A>T	ENSP00000454703.2:p.Glu825Val
NM_024675.3:c.3359A>T , LRG_308t1:c.3359A>T	NP_078951.2:p.Glu1120Val
XM_011545946.1:c.3365A>T	XP_011544248.1:p.Glu1122Val
XM_011545947.1:c.3216A>T	XP_011544249.1:p.Gly1072=
XM_011545948.1:c.2474A>T	XP_011544250.1:p.Glu825Val
XR_950851.1:n.4067A>T
XM_011545946.2:c.3365A>T	XP_011544248.1:p.Glu1122Val
XM_011545947.2:c.3216A>T	XP_011544249.1:p.Gly1072=
XM_011545948.2:c.2474A>T	XP_011544250.1:p.Glu825Val
XM_017023671.1:c.3128A>T	XP_016879160.1:p.Glu1043Val
XM_017023672.2:c.3122A>T	XP_016879161.1:p.Glu1041Val
XM_017023673.2:c.3210A>T	XP_016879162.1:p.Gly1070=
NM_024675.4:c.3359A>T MANE Select	NP_078951.2:p.Glu1120Val