Canonical Allele Identifier: CA494173490
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603471G>A , CM000678.2:g.23603471G>A GRCh38
NC_000016.9:g.23614792G>A , CM000678.1:g.23614792G>A GRCh37
NC_000016.8:g.23522293G>A NCBI36
NG_007406.1:g.42887C>T , LRG_308:g.42887C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3555C>T ENSP00000460666.3:p.Tyr1185=
ENST00000565038.2:c.*1034C>T ENSP00000459882.2:n.*1034C>T
ENST00000566069.6:c.*184C>T ENSP00000459237.2:n.*184C>T
ENST00000697377.2:c.3393C>T ENSP00000513286.2:p.Tyr1131=
ENST00000697379.2:c.3555C>T ENSP00000513287.2:p.Tyr1185=
ENST00000561514.2:c.2664C>T ENSP00000460666.2:p.Tyr888=
ENST00000697374.1:c.2664C>T ENSP00000513284.1:p.Tyr888=
ENST00000697375.1:n.4896C>T
ENST00000697376.1:c.*184C>T ENSP00000513285.1:n.*184C>T
ENST00000697377.1:c.2502C>T ENSP00000513286.1:p.Tyr834=
ENST00000697378.1:n.4069C>T
ENST00000697379.1:c.2664C>T ENSP00000513287.1:p.Tyr888=
ENST00000697380.1:n.2753C>T
ENST00000697381.1:n.2244C>T
ENST00000697382.1:c.*326C>T ENSP00000513288.1:n.*326C>T
ENST00000697383.1:c.1083C>T ENSP00000513289.1:p.Tyr361=
ENST00000261584.9:c.3549C>T MANE Select ENSP00000261584.4:p.Tyr1183=
ENST00000261584.8:c.3549C>T ENSP00000261584.4:p.Tyr1183=
ENST00000566069.5:c.315C>T
ENST00000568219.5:c.2664C>T ENSP00000454703.2:p.Tyr888=
NM_024675.3:c.3549C>T , LRG_308t1:c.3549C>T NP_078951.2:p.Tyr1183=
XM_011545946.1:c.3555C>T XP_011544248.1:p.Tyr1185=
XM_011545947.1:c.*184C>T XP_011544249.1:n.*184C>T
XM_011545948.1:c.2664C>T XP_011544250.1:p.Tyr888=
XR_950851.1:n.4257C>T
XM_011545946.2:c.3555C>T XP_011544248.1:p.Tyr1185=
XM_011545947.2:c.*184C>T XP_011544249.1:n.*184C>T
XM_011545948.2:c.2664C>T XP_011544250.1:p.Tyr888=
XM_017023671.1:c.3318C>T XP_016879160.1:p.Tyr1106=
XM_017023672.2:c.3312C>T XP_016879161.1:p.Tyr1104=
XM_017023673.2:c.*184C>T XP_016879162.1:n.*184C>T
NM_024675.4:c.3549C>T MANE Select NP_078951.2:p.Tyr1183=