Canonical Allele Identifier: CA395137462

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23647482G>C (hg19) ; chr16:g.23636161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636161G>C , CM000678.2:g.23636161G>C	GRCh38
NC_000016.9:g.23647482G>C , CM000678.1:g.23647482G>C	GRCh37
NC_000016.8:g.23554983G>C	NCBI36
NG_007406.1:g.10197C>G , LRG_308:g.10197C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.391C>G	ENSP00000460666.3:p.Pro131Ala
ENST00000565038.2:c.211+1689C>G	ENSP00000459882.2:n.211+1689C>G
ENST00000566069.6:c.385C>G	ENSP00000459237.2:p.Pro129Ala
ENST00000697377.2:c.391C>G	ENSP00000513286.2:p.Pro131Ala
ENST00000697379.2:c.391C>G	ENSP00000513287.2:p.Pro131Ala
ENST00000561514.2:c.-501C>G	ENSP00000460666.2:n.-501C>G
ENST00000697374.1:c.-501C>G	ENSP00000513284.1:n.-501C>G
ENST00000697375.1:n.1732C>G
ENST00000697376.1:c.-501C>G	ENSP00000513285.1:n.-501C>G
ENST00000697377.1:c.-501C>G	ENSP00000513286.1:n.-501C>G
ENST00000697378.1:n.905C>G
ENST00000697379.1:c.-501C>G	ENSP00000513287.1:n.-501C>G
ENST00000697382.1:c.-501C>G	ENSP00000513288.1:n.-501C>G
ENST00000697383.1:c.48+4949C>G	ENSP00000513289.1:n.48+4949C>G
ENST00000697384.1:n.539C>G
ENST00000261584.9:c.385C>G MANE Select	ENSP00000261584.4:p.Pro129Ala
ENST00000261584.8:c.385C>G	ENSP00000261584.4:p.Pro129Ala
ENST00000565038.1:c.86+1689C>G
ENST00000567003.1:n.663C>G
ENST00000568219.5:c.-501C>G	ENSP00000454703.2:n.-501C>G
NM_024675.3:c.385C>G , LRG_308t1:c.385C>G	NP_078951.2:p.Pro129Ala
XM_011545946.1:c.391C>G	XP_011544248.1:p.Pro131Ala
XM_011545947.1:c.391C>G	XP_011544249.1:p.Pro131Ala
XM_011545948.1:c.-501C>G	XP_011544250.1:n.-501C>G
XR_950851.1:n.1181C>G
XM_011545946.2:c.391C>G	XP_011544248.1:p.Pro131Ala
XM_011545947.2:c.391C>G	XP_011544249.1:p.Pro131Ala
XM_011545948.2:c.-501C>G	XP_011544250.1:n.-501C>G
XM_017023671.1:c.391C>G	XP_016879160.1:p.Pro131Ala
XM_017023672.2:c.385C>G	XP_016879161.1:p.Pro129Ala
XM_017023673.2:c.385C>G	XP_016879162.1:p.Pro129Ala
NM_024675.4:c.385C>G MANE Select	NP_078951.2:p.Pro129Ala