Canonical Allele Identifier: CA395143048
Gene: PALB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23632755A>T (hg19) chr16:g.23621434A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621434A>T , CM000678.2:g.23621434A>T GRCh38
NC_000016.9:g.23632755A>T , CM000678.1:g.23632755A>T GRCh37
NC_000016.8:g.23540256A>T NCBI36
NG_007406.1:g.24924T>A , LRG_308:g.24924T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3047T>A ENSP00000460666.3:p.Leu1016Gln
ENST00000565038.2:c.*522T>A ENSP00000459882.2:n.*522T>A
ENST00000566069.6:c.3041T>A ENSP00000459237.2:p.Leu1014Gln
ENST00000697377.2:c.2885T>A ENSP00000513286.2:p.Leu962Gln
ENST00000697379.2:c.3047T>A ENSP00000513287.2:p.Leu1016Gln
ENST00000561514.2:c.2156T>A ENSP00000460666.2:p.Leu719Gln
ENST00000697374.1:c.2156T>A ENSP00000513284.1:p.Leu719Gln
ENST00000697375.1:n.4388T>A
ENST00000697376.1:c.2156T>A ENSP00000513285.1:p.Leu719Gln
ENST00000697377.1:c.1994T>A ENSP00000513286.1:p.Leu665Gln
ENST00000697378.1:n.3561T>A
ENST00000697379.1:c.2156T>A ENSP00000513287.1:p.Leu719Gln
ENST00000697380.1:n.2333T>A
ENST00000697381.1:n.1736T>A
ENST00000697382.1:c.2156T>A ENSP00000513288.1:p.Leu719Gln
ENST00000697383.1:c.575T>A ENSP00000513289.1:p.Leu192Gln
ENST00000261584.9:c.3041T>A MANE Select ENSP00000261584.4:p.Leu1014Gln
ENST00000261584.8:c.3041T>A ENSP00000261584.4:p.Leu1014Gln
ENST00000568219.5:c.2156T>A ENSP00000454703.2:p.Leu719Gln
NM_024675.3:c.3041T>A , LRG_308t1:c.3041T>A NP_078951.2:p.Leu1014Gln
XM_011545946.1:c.3047T>A XP_011544248.1:p.Leu1016Gln
XM_011545947.1:c.3047T>A XP_011544249.1:p.Leu1016Gln
XM_011545948.1:c.2156T>A XP_011544250.1:p.Leu719Gln
XR_950851.1:n.3837T>A
XM_011545946.2:c.3047T>A XP_011544248.1:p.Leu1016Gln
XM_011545947.2:c.3047T>A XP_011544249.1:p.Leu1016Gln
XM_011545948.2:c.2156T>A XP_011544250.1:p.Leu719Gln
XM_017023671.1:c.3047T>A XP_016879160.1:p.Leu1016Gln
XM_017023672.2:c.3041T>A XP_016879161.1:p.Leu1014Gln
XM_017023673.2:c.3041T>A XP_016879162.1:p.Leu1014Gln
NM_024675.4:c.3041T>A MANE Select NP_078951.2:p.Leu1014Gln
Search 100 bp 5'
Search 100 bp 3'