Canonical Allele Identifier: CA7963465

Gene: PALB2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623125A>G , CM000678.2:g.23623125A>G	GRCh38
NC_000016.9:g.23634446A>G , CM000678.1:g.23634446A>G	GRCh37
NC_000016.8:g.23541947A>G	NCBI36
NG_007406.1:g.23233T>C , LRG_308:g.23233T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2846T>C	ENSP00000460666.3:p.Leu949Ser
ENST00000565038.2:c.*321T>C	ENSP00000459882.2:n.*321T>C
ENST00000566069.6:c.2840T>C	ENSP00000459237.2:p.Leu947Ser
ENST00000697377.2:c.2684T>C	ENSP00000513286.2:p.Leu895Ser
ENST00000697379.2:c.2846T>C	ENSP00000513287.2:p.Leu949Ser
ENST00000561514.2:c.1955T>C	ENSP00000460666.2:p.Leu652Ser
ENST00000697374.1:c.1955T>C	ENSP00000513284.1:p.Leu652Ser
ENST00000697375.1:n.4187T>C
ENST00000697376.1:c.1955T>C	ENSP00000513285.1:p.Leu652Ser
ENST00000697377.1:c.1793T>C	ENSP00000513286.1:p.Leu598Ser
ENST00000697378.1:n.3360T>C
ENST00000697379.1:c.1955T>C	ENSP00000513287.1:p.Leu652Ser
ENST00000697380.1:n.2132T>C
ENST00000697381.1:n.1535T>C
ENST00000697382.1:c.1955T>C	ENSP00000513288.1:p.Leu652Ser
ENST00000697383.1:c.374T>C	ENSP00000513289.1:p.Leu125Ser
ENST00000261584.9:c.2840T>C MANE Select	ENSP00000261584.4:p.Leu947Ser
ENST00000261584.8:c.2840T>C	ENSP00000261584.4:p.Leu947Ser
ENST00000568219.5:c.1955T>C	ENSP00000454703.2:p.Leu652Ser
NM_024675.3:c.2840T>C , LRG_308t1:c.2840T>C	NP_078951.2:p.Leu947Ser
XM_011545946.1:c.2846T>C	XP_011544248.1:p.Leu949Ser
XM_011545947.1:c.2846T>C	XP_011544249.1:p.Leu949Ser
XM_011545948.1:c.1955T>C	XP_011544250.1:p.Leu652Ser
XR_950851.1:n.3636T>C
XM_011545946.2:c.2846T>C	XP_011544248.1:p.Leu949Ser
XM_011545947.2:c.2846T>C	XP_011544249.1:p.Leu949Ser
XM_011545948.2:c.1955T>C	XP_011544250.1:p.Leu652Ser
XM_017023671.1:c.2846T>C	XP_016879160.1:p.Leu949Ser
XM_017023672.2:c.2840T>C	XP_016879161.1:p.Leu947Ser
XM_017023673.2:c.2840T>C	XP_016879162.1:p.Leu947Ser
NM_024675.4:c.2840T>C MANE Select	NP_078951.2:p.Leu947Ser