Canonical Allele Identifier: CA494173610
Community Standard Title: NM_024675.4(PALB2):c.3456A>G (p.Pro1152=)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603564T>C , CM000678.2:g.23603564T>C GRCh38
NC_000016.9:g.23614885T>C , CM000678.1:g.23614885T>C GRCh37
NC_000016.8:g.23522386T>C NCBI36
NG_007406.1:g.42794A>G , LRG_308:g.42794A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.3456A>G MANE Select NP_078951.2:p.Pro1152=
ENST00000261584.9:c.3456A>G MANE Select ENSP00000261584.4:p.Pro1152=
NM_024675.3:c.3456A>G , LRG_308t1:c.3456A>G NP_078951.2:p.Pro1152=
ENST00000261584.8:c.3456A>G ENSP00000261584.4:p.Pro1152=
ENST00000561514.2:c.2571A>G ENSP00000460666.2:p.Pro857=
ENST00000561514.3:c.3462A>G ENSP00000460666.3:p.Pro1154=
ENST00000565038.2:c.*941A>G ENSP00000459882.2:n.*941A>G
ENST00000566069.5:c.222A>G
ENST00000566069.6:c.*91A>G ENSP00000459237.2:n.*91A>G
ENST00000568219.5:c.2571A>G ENSP00000454703.2:p.Pro857=
ENST00000697374.1:c.2571A>G ENSP00000513284.1:p.Pro857=
ENST00000697375.1:n.4803A>G
ENST00000697376.1:c.*91A>G ENSP00000513285.1:n.*91A>G
ENST00000697377.1:c.2409A>G ENSP00000513286.1:p.Pro803=
ENST00000697377.2:c.3300A>G ENSP00000513286.2:p.Pro1100=
ENST00000697378.1:n.3976A>G
ENST00000697379.1:c.2571A>G ENSP00000513287.1:p.Pro857=
ENST00000697379.2:c.3462A>G ENSP00000513287.2:p.Pro1154=
ENST00000697380.1:n.2660A>G
ENST00000697381.1:n.2151A>G
ENST00000697382.1:c.*233A>G ENSP00000513288.1:n.*233A>G
ENST00000697383.1:c.990A>G ENSP00000513289.1:p.Pro330=
XM_011545946.1:c.3462A>G XP_011544248.1:p.Pro1154=
XM_011545946.2:c.3462A>G XP_011544248.1:p.Pro1154=
XM_011545947.1:c.*91A>G XP_011544249.1:n.*91A>G
XM_011545947.2:c.*91A>G XP_011544249.1:n.*91A>G
XM_011545948.1:c.2571A>G XP_011544250.1:p.Pro857=
XM_011545948.2:c.2571A>G XP_011544250.1:p.Pro857=
XM_017023671.1:c.3225A>G XP_016879160.1:p.Pro1075=
XM_017023672.2:c.3219A>G XP_016879161.1:p.Pro1073=
XM_017023673.2:c.*91A>G XP_016879162.1:n.*91A>G
XR_950851.1:n.4164A>G