Canonical Allele Identifier: CA395138212
Community Standard Title: NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603601C>T , CM000678.2:g.23603601C>T GRCh38
NC_000016.9:g.23614922C>T , CM000678.1:g.23614922C>T GRCh37
NC_000016.8:g.23522423C>T NCBI36
NG_007406.1:g.42757G>A , LRG_308:g.42757G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.3419G>A MANE Select NP_078951.2:p.Trp1140Ter
ENST00000261584.9:c.3419G>A MANE Select ENSP00000261584.4:p.Trp1140Ter
NM_024675.3:c.3419G>A , LRG_308t1:c.3419G>A NP_078951.2:p.Trp1140Ter
ENST00000261584.8:c.3419G>A ENSP00000261584.4:p.Trp1140Ter
ENST00000561514.2:c.2534G>A ENSP00000460666.2:p.Trp845Ter
ENST00000561514.3:c.3425G>A ENSP00000460666.3:p.Trp1142Ter
ENST00000565038.2:c.*904G>A ENSP00000459882.2:n.*904G>A
ENST00000566069.5:c.185G>A
ENST00000566069.6:c.*54G>A ENSP00000459237.2:n.*54G>A
ENST00000568219.5:c.2534G>A ENSP00000454703.2:p.Trp845Ter
ENST00000697374.1:c.2534G>A ENSP00000513284.1:p.Trp845Ter
ENST00000697375.1:n.4766G>A
ENST00000697376.1:c.*54G>A ENSP00000513285.1:n.*54G>A
ENST00000697377.1:c.2372G>A ENSP00000513286.1:p.Trp791Ter
ENST00000697377.2:c.3263G>A ENSP00000513286.2:p.Trp1088Ter
ENST00000697378.1:n.3939G>A
ENST00000697379.1:c.2534G>A ENSP00000513287.1:p.Trp845Ter
ENST00000697379.2:c.3425G>A ENSP00000513287.2:p.Trp1142Ter
ENST00000697380.1:n.2623G>A
ENST00000697381.1:n.2114G>A
ENST00000697382.1:c.*196G>A ENSP00000513288.1:n.*196G>A
ENST00000697383.1:c.953G>A ENSP00000513289.1:p.Trp318Ter
XM_011545946.1:c.3425G>A XP_011544248.1:p.Trp1142Ter
XM_011545946.2:c.3425G>A XP_011544248.1:p.Trp1142Ter
XM_011545947.1:c.*54G>A XP_011544249.1:n.*54G>A
XM_011545947.2:c.*54G>A XP_011544249.1:n.*54G>A
XM_011545948.1:c.2534G>A XP_011544250.1:p.Trp845Ter
XM_011545948.2:c.2534G>A XP_011544250.1:p.Trp845Ter
XM_017023671.1:c.3188G>A XP_016879160.1:p.Trp1063Ter
XM_017023672.2:c.3182G>A XP_016879161.1:p.Trp1061Ter
XM_017023673.2:c.*54G>A XP_016879162.1:n.*54G>A
XR_950851.1:n.4127G>A