Canonical Allele Identifier: CA494173597

Gene: PALB2

Linked Data

• dbSNP Id: rs1597062045
• MyVariant Identifiers: chr16:g.23614876A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603555A>T , CM000678.2:g.23603555A>T	GRCh38
NC_000016.9:g.23614876A>T , CM000678.1:g.23614876A>T	GRCh37
NC_000016.8:g.23522377A>T	NCBI36
NG_007406.1:g.42803T>A , LRG_308:g.42803T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3471T>A	ENSP00000460666.3:p.Ser1157=
ENST00000565038.2:c.*950T>A	ENSP00000459882.2:n.*950T>A
ENST00000566069.6:c.*100T>A	ENSP00000459237.2:n.*100T>A
ENST00000697377.2:c.3309T>A	ENSP00000513286.2:p.Ser1103=
ENST00000697379.2:c.3471T>A	ENSP00000513287.2:p.Ser1157=
ENST00000561514.2:c.2580T>A	ENSP00000460666.2:p.Ser860=
ENST00000697374.1:c.2580T>A	ENSP00000513284.1:p.Ser860=
ENST00000697375.1:n.4812T>A
ENST00000697376.1:c.*100T>A	ENSP00000513285.1:n.*100T>A
ENST00000697377.1:c.2418T>A	ENSP00000513286.1:p.Ser806=
ENST00000697378.1:n.3985T>A
ENST00000697379.1:c.2580T>A	ENSP00000513287.1:p.Ser860=
ENST00000697380.1:n.2669T>A
ENST00000697381.1:n.2160T>A
ENST00000697382.1:c.*242T>A	ENSP00000513288.1:n.*242T>A
ENST00000697383.1:c.999T>A	ENSP00000513289.1:p.Ser333=
ENST00000261584.9:c.3465T>A MANE Select	ENSP00000261584.4:p.Ser1155=
ENST00000261584.8:c.3465T>A	ENSP00000261584.4:p.Ser1155=
ENST00000566069.5:c.231T>A
ENST00000568219.5:c.2580T>A	ENSP00000454703.2:p.Ser860=
NM_024675.3:c.3465T>A , LRG_308t1:c.3465T>A	NP_078951.2:p.Ser1155=
XM_011545946.1:c.3471T>A	XP_011544248.1:p.Ser1157=
XM_011545947.1:c.*100T>A	XP_011544249.1:n.*100T>A
XM_011545948.1:c.2580T>A	XP_011544250.1:p.Ser860=
XR_950851.1:n.4173T>A
XM_011545946.2:c.3471T>A	XP_011544248.1:p.Ser1157=
XM_011545947.2:c.*100T>A	XP_011544249.1:n.*100T>A
XM_011545948.2:c.2580T>A	XP_011544250.1:p.Ser860=
XM_017023671.1:c.3234T>A	XP_016879160.1:p.Ser1078=
XM_017023672.2:c.3228T>A	XP_016879161.1:p.Ser1076=
XM_017023673.2:c.*100T>A	XP_016879162.1:n.*100T>A
NM_024675.4:c.3465T>A MANE Select	NP_078951.2:p.Ser1155=