Canonical Allele Identifier: CA2213414676
Community Standard Title: NM_024675.4(PALB2):c.2832C= (p.Ile944=)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23624011G= , CM000678.2:g.23624011G= GRCh38
NC_000016.9:g.23635332G= , CM000678.1:g.23635332G= GRCh37
NC_000016.8:g.23542833G= NCBI36
NG_007406.1:g.22347C= , LRG_308:g.22347C=

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.2832C= MANE Select NP_078951.2:p.Ile944=
ENST00000261584.9:c.2832C= MANE Select ENSP00000261584.4:p.Ile944=
NM_024675.3:c.2832C= , LRG_308t1:c.2832C= NP_078951.2:p.Ile944=
ENST00000261584.8:c.2832C= ENSP00000261584.4:p.Ile944=
ENST00000561514.2:c.1947C= ENSP00000460666.2:p.Ile649=
ENST00000561514.3:c.2838C= ENSP00000460666.3:p.Ile946=
ENST00000565038.2:c.*313C= ENSP00000459882.2:n.*313C=
ENST00000566069.6:c.2832C= ENSP00000459237.2:p.Ile944=
ENST00000568219.5:c.1947C= ENSP00000454703.2:p.Ile649=
ENST00000697374.1:c.1947C= ENSP00000513284.1:p.Ile649=
ENST00000697375.1:n.4179C=
ENST00000697376.1:c.1947C= ENSP00000513285.1:p.Ile649=
ENST00000697377.1:c.1785C= ENSP00000513286.1:p.Ile595=
ENST00000697377.2:c.2676C= ENSP00000513286.2:p.Ile892=
ENST00000697378.1:n.3352C=
ENST00000697379.1:c.1947C= ENSP00000513287.1:p.Ile649=
ENST00000697379.2:c.2838C= ENSP00000513287.2:p.Ile946=
ENST00000697380.1:n.2124C=
ENST00000697381.1:n.1527C=
ENST00000697382.1:c.1947C= ENSP00000513288.1:p.Ile649=
ENST00000697383.1:c.366C= ENSP00000513289.1:p.Ile122=
XM_011545946.1:c.2838C= XP_011544248.1:p.Ile946=
XM_011545946.2:c.2838C= XP_011544248.1:p.Ile946=
XM_011545947.1:c.2838C= XP_011544249.1:p.Ile946=
XM_011545947.2:c.2838C= XP_011544249.1:p.Ile946=
XM_011545948.1:c.1947C= XP_011544250.1:p.Ile649=
XM_011545948.2:c.1947C= XP_011544250.1:p.Ile649=
XM_017023671.1:c.2838C= XP_016879160.1:p.Ile946=
XM_017023672.2:c.2832C= XP_016879161.1:p.Ile944=
XM_017023673.2:c.2832C= XP_016879162.1:p.Ile944=
XR_950851.1:n.3628C=