Canonical Allele Identifier: CA395139430

Gene: PALB2

Linked Data

• gnomAD v4: 16-23607900-A-C
• MyVariant Identifiers: chr16:g.23619221A>C (hg19) ; chr16:g.23607900A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607900A>C , CM000678.2:g.23607900A>C	GRCh38
NC_000016.9:g.23619221A>C , CM000678.1:g.23619221A>C	GRCh37
NC_000016.8:g.23526722A>C	NCBI36
NG_007406.1:g.38458T>G , LRG_308:g.38458T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3320T>G	ENSP00000460666.3:p.Val1107Gly
ENST00000565038.2:c.*795T>G	ENSP00000459882.2:n.*795T>G
ENST00000566069.6:c.3202-4231T>G	ENSP00000459237.2:n.3202-4231T>G
ENST00000697377.2:c.3158T>G	ENSP00000513286.2:p.Val1053Gly
ENST00000697379.2:c.3320T>G	ENSP00000513287.2:p.Val1107Gly
ENST00000561514.2:c.2429T>G	ENSP00000460666.2:p.Val810Gly
ENST00000697374.1:c.2429T>G	ENSP00000513284.1:p.Val810Gly
ENST00000697375.1:n.4661T>G
ENST00000697376.1:c.2317-4231T>G	ENSP00000513285.1:n.2317-4231T>G
ENST00000697377.1:c.2267T>G	ENSP00000513286.1:p.Val756Gly
ENST00000697378.1:n.3834T>G
ENST00000697379.1:c.2429T>G	ENSP00000513287.1:p.Val810Gly
ENST00000697380.1:n.2518T>G
ENST00000697381.1:n.2009T>G
ENST00000697382.1:c.*91T>G	ENSP00000513288.1:n.*91T>G
ENST00000697383.1:c.848T>G	ENSP00000513289.1:p.Val283Gly
ENST00000261584.9:c.3314T>G MANE Select	ENSP00000261584.4:p.Val1105Gly
ENST00000261584.8:c.3314T>G	ENSP00000261584.4:p.Val1105Gly
ENST00000566069.5:c.117-4231T>G
ENST00000568219.5:c.2429T>G	ENSP00000454703.2:p.Val810Gly
NM_024675.3:c.3314T>G , LRG_308t1:c.3314T>G	NP_078951.2:p.Val1105Gly
XM_011545946.1:c.3320T>G	XP_011544248.1:p.Val1107Gly
XM_011545947.1:c.3208-4231T>G	XP_011544249.1:n.3208-4231T>G
XM_011545948.1:c.2429T>G	XP_011544250.1:p.Val810Gly
XR_950851.1:n.4022T>G
XM_011545946.2:c.3320T>G	XP_011544248.1:p.Val1107Gly
XM_011545947.2:c.3208-4231T>G	XP_011544249.1:n.3208-4231T>G
XM_011545948.2:c.2429T>G	XP_011544250.1:p.Val810Gly
XM_017023671.1:c.3120-4231T>G	XP_016879160.1:n.3120-4231T>G
XM_017023672.2:c.3114-4231T>G	XP_016879161.1:n.3114-4231T>G
XM_017023673.2:c.3202-4231T>G	XP_016879162.1:n.3202-4231T>G
NM_024675.4:c.3314T>G MANE Select	NP_078951.2:p.Val1105Gly