Canonical Allele Identifier: CA7963642
Community Standard Title: NM_024675.4(PALB2):c.1960A>G (p.Ile654Val)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630194T>C , CM000678.2:g.23630194T>C GRCh38
NC_000016.9:g.23641515T>C , CM000678.1:g.23641515T>C GRCh37
NC_000016.8:g.23549016T>C NCBI36
NG_007406.1:g.16164A>G , LRG_308:g.16164A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.1960A>G MANE Select NP_078951.2:p.Ile654Val
ENST00000261584.9:c.1960A>G MANE Select ENSP00000261584.4:p.Ile654Val
NM_024675.3:c.1960A>G , LRG_308t1:c.1960A>G NP_078951.2:p.Ile654Val
ENST00000261584.8:c.1960A>G ENSP00000261584.4:p.Ile654Val
ENST00000561514.2:c.1075A>G ENSP00000460666.2:p.Ile359Val
ENST00000561514.3:c.1966A>G ENSP00000460666.3:p.Ile656Val
ENST00000565038.1:c.87-919A>G
ENST00000565038.2:c.212-919A>G ENSP00000459882.2:n.212-919A>G
ENST00000566069.6:c.1960A>G ENSP00000459237.2:p.Ile654Val
ENST00000568219.5:c.1075A>G ENSP00000454703.2:p.Ile359Val
ENST00000697374.1:c.1075A>G ENSP00000513284.1:p.Ile359Val
ENST00000697375.1:n.3307A>G
ENST00000697376.1:c.1075A>G ENSP00000513285.1:p.Ile359Val
ENST00000697377.1:c.1075A>G ENSP00000513286.1:p.Ile359Val
ENST00000697377.2:c.1966A>G ENSP00000513286.2:p.Ile656Val
ENST00000697378.1:n.2480A>G
ENST00000697379.1:c.1075A>G ENSP00000513287.1:p.Ile359Val
ENST00000697379.2:c.1966A>G ENSP00000513287.2:p.Ile656Val
ENST00000697380.1:n.888A>G
ENST00000697381.1:n.655A>G
ENST00000697382.1:c.1075A>G ENSP00000513288.1:p.Ile359Val
ENST00000697383.1:c.49-919A>G ENSP00000513289.1:n.49-919A>G
ENST00000697384.1:n.2114A>G
XM_011545946.1:c.1966A>G XP_011544248.1:p.Ile656Val
XM_011545946.2:c.1966A>G XP_011544248.1:p.Ile656Val
XM_011545947.1:c.1966A>G XP_011544249.1:p.Ile656Val
XM_011545947.2:c.1966A>G XP_011544249.1:p.Ile656Val
XM_011545948.1:c.1075A>G XP_011544250.1:p.Ile359Val
XM_011545948.2:c.1075A>G XP_011544250.1:p.Ile359Val
XM_017023671.1:c.1966A>G XP_016879160.1:p.Ile656Val
XM_017023672.2:c.1960A>G XP_016879161.1:p.Ile654Val
XM_017023673.2:c.1960A>G XP_016879162.1:p.Ile654Val
XR_950851.1:n.2756A>G