Canonical Allele Identifier: CA279533305

Gene: PALB2

Linked Data

• ClinVar Variation Id: 830185
• ClinVar RCV Id: RCV001030368 ; RCV003607399
• dbSNP Id: rs552354535
• gnomAD v3: 16-23621449-G-A
• gnomAD v4: 16-23621449-G-A
• MyVariant Identifiers: chr16:g.23632770G>A (hg19) ; chr16:g.23621449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621449G>A , CM000678.2:g.23621449G>A	GRCh38
NC_000016.9:g.23632770G>A , CM000678.1:g.23632770G>A	GRCh37
NC_000016.8:g.23540271G>A	NCBI36
NG_007406.1:g.24909C>T , LRG_308:g.24909C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3032C>T	ENSP00000460666.3:p.Pro1011Leu
ENST00000565038.2:c.*507C>T	ENSP00000459882.2:n.*507C>T
ENST00000566069.6:c.3026C>T	ENSP00000459237.2:p.Pro1009Leu
ENST00000697377.2:c.2870C>T	ENSP00000513286.2:p.Pro957Leu
ENST00000697379.2:c.3032C>T	ENSP00000513287.2:p.Pro1011Leu
ENST00000561514.2:c.2141C>T	ENSP00000460666.2:p.Pro714Leu
ENST00000697374.1:c.2141C>T	ENSP00000513284.1:p.Pro714Leu
ENST00000697375.1:n.4373C>T
ENST00000697376.1:c.2141C>T	ENSP00000513285.1:p.Pro714Leu
ENST00000697377.1:c.1979C>T	ENSP00000513286.1:p.Pro660Leu
ENST00000697378.1:n.3546C>T
ENST00000697379.1:c.2141C>T	ENSP00000513287.1:p.Pro714Leu
ENST00000697380.1:n.2318C>T
ENST00000697381.1:n.1721C>T
ENST00000697382.1:c.2141C>T	ENSP00000513288.1:p.Pro714Leu
ENST00000697383.1:c.560C>T	ENSP00000513289.1:p.Pro187Leu
ENST00000261584.9:c.3026C>T MANE Select	ENSP00000261584.4:p.Pro1009Leu
ENST00000261584.8:c.3026C>T	ENSP00000261584.4:p.Pro1009Leu
ENST00000568219.5:c.2141C>T	ENSP00000454703.2:p.Pro714Leu
NM_024675.3:c.3026C>T , LRG_308t1:c.3026C>T	NP_078951.2:p.Pro1009Leu
XM_011545946.1:c.3032C>T	XP_011544248.1:p.Pro1011Leu
XM_011545947.1:c.3032C>T	XP_011544249.1:p.Pro1011Leu
XM_011545948.1:c.2141C>T	XP_011544250.1:p.Pro714Leu
XR_950851.1:n.3822C>T
XM_011545946.2:c.3032C>T	XP_011544248.1:p.Pro1011Leu
XM_011545947.2:c.3032C>T	XP_011544249.1:p.Pro1011Leu
XM_011545948.2:c.2141C>T	XP_011544250.1:p.Pro714Leu
XM_017023671.1:c.3032C>T	XP_016879160.1:p.Pro1011Leu
XM_017023672.2:c.3026C>T	XP_016879161.1:p.Pro1009Leu
XM_017023673.2:c.3026C>T	XP_016879162.1:p.Pro1009Leu
NM_024675.4:c.3026C>T MANE Select	NP_078951.2:p.Pro1009Leu