Canonical Allele Identifier: CA494175510
Community Standard Title: NM_024675.4(PALB2):c.3315G>A (p.Val1105=)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23607899C>T , CM000678.2:g.23607899C>T GRCh38
NC_000016.9:g.23619220C>T , CM000678.1:g.23619220C>T GRCh37
NC_000016.8:g.23526721C>T NCBI36
NG_007406.1:g.38459G>A , LRG_308:g.38459G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.3315G>A MANE Select NP_078951.2:p.Val1105=
ENST00000261584.9:c.3315G>A MANE Select ENSP00000261584.4:p.Val1105=
NM_024675.3:c.3315G>A , LRG_308t1:c.3315G>A NP_078951.2:p.Val1105=
ENST00000261584.8:c.3315G>A ENSP00000261584.4:p.Val1105=
ENST00000561514.2:c.2430G>A ENSP00000460666.2:p.Val810=
ENST00000561514.3:c.3321G>A ENSP00000460666.3:p.Val1107=
ENST00000565038.2:c.*796G>A ENSP00000459882.2:n.*796G>A
ENST00000566069.5:c.117-4230G>A
ENST00000566069.6:c.3202-4230G>A ENSP00000459237.2:n.3202-4230G>A
ENST00000568219.5:c.2430G>A ENSP00000454703.2:p.Val810=
ENST00000697374.1:c.2430G>A ENSP00000513284.1:p.Val810=
ENST00000697375.1:n.4662G>A
ENST00000697376.1:c.2317-4230G>A ENSP00000513285.1:n.2317-4230G>A
ENST00000697377.1:c.2268G>A ENSP00000513286.1:p.Val756=
ENST00000697377.2:c.3159G>A ENSP00000513286.2:p.Val1053=
ENST00000697378.1:n.3835G>A
ENST00000697379.1:c.2430G>A ENSP00000513287.1:p.Val810=
ENST00000697379.2:c.3321G>A ENSP00000513287.2:p.Val1107=
ENST00000697380.1:n.2519G>A
ENST00000697381.1:n.2010G>A
ENST00000697382.1:c.*92G>A ENSP00000513288.1:n.*92G>A
ENST00000697383.1:c.849G>A ENSP00000513289.1:p.Val283=
XM_011545946.1:c.3321G>A XP_011544248.1:p.Val1107=
XM_011545946.2:c.3321G>A XP_011544248.1:p.Val1107=
XM_011545947.1:c.3208-4230G>A XP_011544249.1:n.3208-4230G>A
XM_011545947.2:c.3208-4230G>A XP_011544249.1:n.3208-4230G>A
XM_011545948.1:c.2430G>A XP_011544250.1:p.Val810=
XM_011545948.2:c.2430G>A XP_011544250.1:p.Val810=
XM_017023671.1:c.3120-4230G>A XP_016879160.1:n.3120-4230G>A
XM_017023672.2:c.3114-4230G>A XP_016879161.1:n.3114-4230G>A
XM_017023673.2:c.3202-4230G>A XP_016879162.1:n.3202-4230G>A
XR_950851.1:n.4023G>A