Canonical Allele Identifier: CA16614855

Gene: PALB2

Linked Data

• ClinVar Variation Id: 410118
• ClinVar RCV Id: RCV000474363 ; RCV000575626 ; RCV000587874 ; RCV001030235 ; RCV002480416
• dbSNP Id: rs1060502741
• gnomAD v4: 16-23635009-T-C
• MyVariant Identifiers: chr16:g.23646330T>C (hg19) ; chr16:g.23635009T>C (hg38)
• PubMed: PMID:26315354

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635009T>C , CM000678.2:g.23635009T>C	GRCh38
NC_000016.9:g.23646330T>C , CM000678.1:g.23646330T>C	GRCh37
NC_000016.8:g.23553831T>C	NCBI36
NG_007406.1:g.11349A>G , LRG_308:g.11349A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1543A>G	ENSP00000460666.3:p.Thr515Ala
ENST00000565038.2:c.211+2841A>G	ENSP00000459882.2:n.211+2841A>G
ENST00000566069.6:c.1537A>G	ENSP00000459237.2:p.Thr513Ala
ENST00000697377.2:c.1543A>G	ENSP00000513286.2:p.Thr515Ala
ENST00000697379.2:c.1543A>G	ENSP00000513287.2:p.Thr515Ala
ENST00000561514.2:c.652A>G	ENSP00000460666.2:p.Thr218Ala
ENST00000697374.1:c.652A>G	ENSP00000513284.1:p.Thr218Ala
ENST00000697375.1:n.2884A>G
ENST00000697376.1:c.652A>G	ENSP00000513285.1:p.Thr218Ala
ENST00000697377.1:c.652A>G	ENSP00000513286.1:p.Thr218Ala
ENST00000697378.1:n.2057A>G
ENST00000697379.1:c.652A>G	ENSP00000513287.1:p.Thr218Ala
ENST00000697382.1:c.652A>G	ENSP00000513288.1:p.Thr218Ala
ENST00000697383.1:c.49-5734A>G	ENSP00000513289.1:n.49-5734A>G
ENST00000697384.1:n.1691A>G
ENST00000261584.9:c.1537A>G MANE Select	ENSP00000261584.4:p.Thr513Ala
ENST00000261584.8:c.1537A>G	ENSP00000261584.4:p.Thr513Ala
ENST00000565038.1:c.86+2841A>G
ENST00000568219.5:c.652A>G	ENSP00000454703.2:p.Thr218Ala
NM_024675.3:c.1537A>G , LRG_308t1:c.1537A>G	NP_078951.2:p.Thr513Ala
XM_011545946.1:c.1543A>G	XP_011544248.1:p.Thr515Ala
XM_011545947.1:c.1543A>G	XP_011544249.1:p.Thr515Ala
XM_011545948.1:c.652A>G	XP_011544250.1:p.Thr218Ala
XR_950851.1:n.2333A>G
XM_011545946.2:c.1543A>G	XP_011544248.1:p.Thr515Ala
XM_011545947.2:c.1543A>G	XP_011544249.1:p.Thr515Ala
XM_011545948.2:c.652A>G	XP_011544250.1:p.Thr218Ala
XM_017023671.1:c.1543A>G	XP_016879160.1:p.Thr515Ala
XM_017023672.2:c.1537A>G	XP_016879161.1:p.Thr513Ala
XM_017023673.2:c.1537A>G	XP_016879162.1:p.Thr513Ala
NM_024675.4:c.1537A>G MANE Select	NP_078951.2:p.Thr513Ala