Canonical Allele Identifier: CA2213433824
Community Standard Title: NM_024675.4(PALB2):c.170G= (p.Cys57=)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637891C= , CM000678.2:g.23637891C= GRCh38
NC_000016.9:g.23649212C= , CM000678.1:g.23649212C= GRCh37
NC_000016.8:g.23556713C= NCBI36
NG_007406.1:g.8467G= , LRG_308:g.8467G=

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.170G= MANE Select NP_078951.2:p.Cys57=
ENST00000261584.9:c.170G= MANE Select ENSP00000261584.4:p.Cys57=
NM_024675.3:c.170G= , LRG_308t1:c.170G= NP_078951.2:p.Cys57=
ENST00000261584.8:c.170G= ENSP00000261584.4:p.Cys57=
ENST00000561514.1:c.176G= ENSP00000460666.1:p.Cys59=
ENST00000561514.2:c.-716G= ENSP00000460666.2:n.-716G=
ENST00000561514.3:c.176G= ENSP00000460666.3:p.Cys59=
ENST00000565038.1:c.45G=
ENST00000565038.2:c.170G= ENSP00000459882.2:p.Cys57=
ENST00000566069.6:c.170G= ENSP00000459237.2:p.Cys57=
ENST00000567003.1:n.448G=
ENST00000568219.5:c.-716G= ENSP00000454703.2:n.-716G=
ENST00000697374.1:c.-716G= ENSP00000513284.1:n.-716G=
ENST00000697375.1:n.1517G=
ENST00000697376.1:c.-716G= ENSP00000513285.1:n.-716G=
ENST00000697377.1:c.-716G= ENSP00000513286.1:n.-716G=
ENST00000697377.2:c.176G= ENSP00000513286.2:p.Cys59=
ENST00000697378.1:n.690G=
ENST00000697379.1:c.-716G= ENSP00000513287.1:n.-716G=
ENST00000697379.2:c.176G= ENSP00000513287.2:p.Cys59=
ENST00000697382.1:c.-716G= ENSP00000513288.1:n.-716G=
ENST00000697383.1:c.48+3219G= ENSP00000513289.1:n.48+3219G=
ENST00000697384.1:n.324G=
XM_011545946.1:c.176G= XP_011544248.1:p.Cys59=
XM_011545946.2:c.176G= XP_011544248.1:p.Cys59=
XM_011545947.1:c.176G= XP_011544249.1:p.Cys59=
XM_011545947.2:c.176G= XP_011544249.1:p.Cys59=
XM_011545948.1:c.-716G= XP_011544250.1:n.-716G=
XM_011545948.2:c.-716G= XP_011544250.1:n.-716G=
XM_017023671.1:c.176G= XP_016879160.1:p.Cys59=
XM_017023672.2:c.170G= XP_016879161.1:p.Cys57=
XM_017023673.2:c.170G= XP_016879162.1:p.Cys57=
XR_950851.1:n.966G=