Canonical Allele Identifier: CA494173554

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614840T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603519T>G , CM000678.2:g.23603519T>G	GRCh38
NC_000016.9:g.23614840T>G , CM000678.1:g.23614840T>G	GRCh37
NC_000016.8:g.23522341T>G	NCBI36
NG_007406.1:g.42839A>C , LRG_308:g.42839A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3507A>C	ENSP00000460666.3:p.Thr1169=
ENST00000565038.2:c.*986A>C	ENSP00000459882.2:n.*986A>C
ENST00000566069.6:c.*136A>C	ENSP00000459237.2:n.*136A>C
ENST00000697377.2:c.3345A>C	ENSP00000513286.2:p.Thr1115=
ENST00000697379.2:c.3507A>C	ENSP00000513287.2:p.Thr1169=
ENST00000561514.2:c.2616A>C	ENSP00000460666.2:p.Thr872=
ENST00000697374.1:c.2616A>C	ENSP00000513284.1:p.Thr872=
ENST00000697375.1:n.4848A>C
ENST00000697376.1:c.*136A>C	ENSP00000513285.1:n.*136A>C
ENST00000697377.1:c.2454A>C	ENSP00000513286.1:p.Thr818=
ENST00000697378.1:n.4021A>C
ENST00000697379.1:c.2616A>C	ENSP00000513287.1:p.Thr872=
ENST00000697380.1:n.2705A>C
ENST00000697381.1:n.2196A>C
ENST00000697382.1:c.*278A>C	ENSP00000513288.1:n.*278A>C
ENST00000697383.1:c.1035A>C	ENSP00000513289.1:p.Thr345=
ENST00000261584.9:c.3501A>C MANE Select	ENSP00000261584.4:p.Thr1167=
ENST00000261584.8:c.3501A>C	ENSP00000261584.4:p.Thr1167=
ENST00000566069.5:c.267A>C
ENST00000568219.5:c.2616A>C	ENSP00000454703.2:p.Thr872=
NM_024675.3:c.3501A>C , LRG_308t1:c.3501A>C	NP_078951.2:p.Thr1167=
XM_011545946.1:c.3507A>C	XP_011544248.1:p.Thr1169=
XM_011545947.1:c.*136A>C	XP_011544249.1:n.*136A>C
XM_011545948.1:c.2616A>C	XP_011544250.1:p.Thr872=
XR_950851.1:n.4209A>C
XM_011545946.2:c.3507A>C	XP_011544248.1:p.Thr1169=
XM_011545947.2:c.*136A>C	XP_011544249.1:n.*136A>C
XM_011545948.2:c.2616A>C	XP_011544250.1:p.Thr872=
XM_017023671.1:c.3270A>C	XP_016879160.1:p.Thr1090=
XM_017023672.2:c.3264A>C	XP_016879161.1:p.Thr1088=
XM_017023673.2:c.*136A>C	XP_016879162.1:n.*136A>C
NM_024675.4:c.3501A>C MANE Select	NP_078951.2:p.Thr1167=