Canonical Allele Identifier: CA494173561

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614846C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603525C>A , CM000678.2:g.23603525C>A	GRCh38
NC_000016.9:g.23614846C>A , CM000678.1:g.23614846C>A	GRCh37
NC_000016.8:g.23522347C>A	NCBI36
NG_007406.1:g.42833G>T , LRG_308:g.42833G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3501G>T	ENSP00000460666.3:p.Ser1167=
ENST00000565038.2:c.*980G>T	ENSP00000459882.2:n.*980G>T
ENST00000566069.6:c.*130G>T	ENSP00000459237.2:n.*130G>T
ENST00000697377.2:c.3339G>T	ENSP00000513286.2:p.Ser1113=
ENST00000697379.2:c.3501G>T	ENSP00000513287.2:p.Ser1167=
ENST00000561514.2:c.2610G>T	ENSP00000460666.2:p.Ser870=
ENST00000697374.1:c.2610G>T	ENSP00000513284.1:p.Ser870=
ENST00000697375.1:n.4842G>T
ENST00000697376.1:c.*130G>T	ENSP00000513285.1:n.*130G>T
ENST00000697377.1:c.2448G>T	ENSP00000513286.1:p.Ser816=
ENST00000697378.1:n.4015G>T
ENST00000697379.1:c.2610G>T	ENSP00000513287.1:p.Ser870=
ENST00000697380.1:n.2699G>T
ENST00000697381.1:n.2190G>T
ENST00000697382.1:c.*272G>T	ENSP00000513288.1:n.*272G>T
ENST00000697383.1:c.1029G>T	ENSP00000513289.1:p.Ser343=
ENST00000261584.9:c.3495G>T MANE Select	ENSP00000261584.4:p.Ser1165=
ENST00000261584.8:c.3495G>T	ENSP00000261584.4:p.Ser1165=
ENST00000566069.5:c.261G>T
ENST00000568219.5:c.2610G>T	ENSP00000454703.2:p.Ser870=
NM_024675.3:c.3495G>T , LRG_308t1:c.3495G>T	NP_078951.2:p.Ser1165=
XM_011545946.1:c.3501G>T	XP_011544248.1:p.Ser1167=
XM_011545947.1:c.*130G>T	XP_011544249.1:n.*130G>T
XM_011545948.1:c.2610G>T	XP_011544250.1:p.Ser870=
XR_950851.1:n.4203G>T
XM_011545946.2:c.3501G>T	XP_011544248.1:p.Ser1167=
XM_011545947.2:c.*130G>T	XP_011544249.1:n.*130G>T
XM_011545948.2:c.2610G>T	XP_011544250.1:p.Ser870=
XM_017023671.1:c.3264G>T	XP_016879160.1:p.Ser1088=
XM_017023672.2:c.3258G>T	XP_016879161.1:p.Ser1086=
XM_017023673.2:c.*130G>T	XP_016879162.1:n.*130G>T
NM_024675.4:c.3495G>T MANE Select	NP_078951.2:p.Ser1165=