Canonical Allele Identifier: CA494461891

Gene: PALB2

Linked Data

• ClinVar Variation Id: 629255
• ClinVar RCV Id: RCV000773954
• dbSNP Id: rs1375166092
• gnomAD v4: 16-23636039-G-A
• MyVariant Identifiers: chr16:g.23647360G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636039G>A , CM000678.2:g.23636039G>A	GRCh38
NC_000016.9:g.23647360G>A , CM000678.1:g.23647360G>A	GRCh37
NC_000016.8:g.23554861G>A	NCBI36
NG_007406.1:g.10319C>T , LRG_308:g.10319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.513C>T	ENSP00000460666.3:p.Leu171=
ENST00000565038.2:c.211+1811C>T	ENSP00000459882.2:n.211+1811C>T
ENST00000566069.6:c.507C>T	ENSP00000459237.2:p.Leu169=
ENST00000697377.2:c.513C>T	ENSP00000513286.2:p.Leu171=
ENST00000697379.2:c.513C>T	ENSP00000513287.2:p.Leu171=
ENST00000561514.2:c.-379C>T	ENSP00000460666.2:n.-379C>T
ENST00000697374.1:c.-379C>T	ENSP00000513284.1:n.-379C>T
ENST00000697375.1:n.1854C>T
ENST00000697376.1:c.-379C>T	ENSP00000513285.1:n.-379C>T
ENST00000697377.1:c.-379C>T	ENSP00000513286.1:n.-379C>T
ENST00000697378.1:n.1027C>T
ENST00000697379.1:c.-379C>T	ENSP00000513287.1:n.-379C>T
ENST00000697382.1:c.-379C>T	ENSP00000513288.1:n.-379C>T
ENST00000697383.1:c.48+5071C>T	ENSP00000513289.1:n.48+5071C>T
ENST00000697384.1:n.661C>T
ENST00000261584.9:c.507C>T MANE Select	ENSP00000261584.4:p.Leu169=
ENST00000261584.8:c.507C>T	ENSP00000261584.4:p.Leu169=
ENST00000565038.1:c.86+1811C>T
ENST00000567003.1:n.785C>T
ENST00000568219.5:c.-379C>T	ENSP00000454703.2:n.-379C>T
NM_024675.3:c.507C>T , LRG_308t1:c.507C>T	NP_078951.2:p.Leu169=
XM_011545946.1:c.513C>T	XP_011544248.1:p.Leu171=
XM_011545947.1:c.513C>T	XP_011544249.1:p.Leu171=
XM_011545948.1:c.-379C>T	XP_011544250.1:n.-379C>T
XR_950851.1:n.1303C>T
XM_011545946.2:c.513C>T	XP_011544248.1:p.Leu171=
XM_011545947.2:c.513C>T	XP_011544249.1:p.Leu171=
XM_011545948.2:c.-379C>T	XP_011544250.1:n.-379C>T
XM_017023671.1:c.513C>T	XP_016879160.1:p.Leu171=
XM_017023672.2:c.507C>T	XP_016879161.1:p.Leu169=
XM_017023673.2:c.507C>T	XP_016879162.1:p.Leu169=
NM_024675.4:c.507C>T MANE Select	NP_078951.2:p.Leu169=