Canonical Allele Identifier: CA193817

Gene: PALB2

Linked Data

• ClinVar Variation Id: 186083
• ClinVar RCV Id: RCV000165612 ; RCV000409495 ; RCV001721073 ; RCV004535115
• dbSNP Id: rs786202680
• gnomAD v4: 16-23636123-C-T
• MyVariant Identifiers: chr16:g.23647444C>T (hg19) ; chr16:g.23636123C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636123C>T , CM000678.2:g.23636123C>T	GRCh38
NC_000016.9:g.23647444C>T , CM000678.1:g.23647444C>T	GRCh37
NC_000016.8:g.23554945C>T	NCBI36
NG_007406.1:g.10235G>A , LRG_308:g.10235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.429G>A	ENSP00000460666.3:p.Gln143=
ENST00000565038.2:c.211+1727G>A	ENSP00000459882.2:n.211+1727G>A
ENST00000566069.6:c.423G>A	ENSP00000459237.2:p.Gln141=
ENST00000697377.2:c.429G>A	ENSP00000513286.2:p.Gln143=
ENST00000697379.2:c.429G>A	ENSP00000513287.2:p.Gln143=
ENST00000561514.2:c.-463G>A	ENSP00000460666.2:n.-463G>A
ENST00000697374.1:c.-463G>A	ENSP00000513284.1:n.-463G>A
ENST00000697375.1:n.1770G>A
ENST00000697376.1:c.-463G>A	ENSP00000513285.1:n.-463G>A
ENST00000697377.1:c.-463G>A	ENSP00000513286.1:n.-463G>A
ENST00000697378.1:n.943G>A
ENST00000697379.1:c.-463G>A	ENSP00000513287.1:n.-463G>A
ENST00000697382.1:c.-463G>A	ENSP00000513288.1:n.-463G>A
ENST00000697383.1:c.48+4987G>A	ENSP00000513289.1:n.48+4987G>A
ENST00000697384.1:n.577G>A
ENST00000261584.9:c.423G>A MANE Select	ENSP00000261584.4:p.Gln141=
ENST00000261584.8:c.423G>A	ENSP00000261584.4:p.Gln141=
ENST00000565038.1:c.86+1727G>A
ENST00000567003.1:n.701G>A
ENST00000568219.5:c.-463G>A	ENSP00000454703.2:n.-463G>A
NM_024675.3:c.423G>A , LRG_308t1:c.423G>A	NP_078951.2:p.Gln141=
XM_011545946.1:c.429G>A	XP_011544248.1:p.Gln143=
XM_011545947.1:c.429G>A	XP_011544249.1:p.Gln143=
XM_011545948.1:c.-463G>A	XP_011544250.1:n.-463G>A
XR_950851.1:n.1219G>A
XM_011545946.2:c.429G>A	XP_011544248.1:p.Gln143=
XM_011545947.2:c.429G>A	XP_011544249.1:p.Gln143=
XM_011545948.2:c.-463G>A	XP_011544250.1:n.-463G>A
XM_017023671.1:c.429G>A	XP_016879160.1:p.Gln143=
XM_017023672.2:c.423G>A	XP_016879161.1:p.Gln141=
XM_017023673.2:c.423G>A	XP_016879162.1:p.Gln141=
NM_024675.4:c.423G>A MANE Select	NP_078951.2:p.Gln141=