Canonical Allele Identifier: CA395137726

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614802A>C (hg19) ; chr16:g.23603481A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603481A>C , CM000678.2:g.23603481A>C	GRCh38
NC_000016.9:g.23614802A>C , CM000678.1:g.23614802A>C	GRCh37
NC_000016.8:g.23522303A>C	NCBI36
NG_007406.1:g.42877T>G , LRG_308:g.42877T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3545T>G	ENSP00000460666.3:p.Ile1182Arg
ENST00000565038.2:c.*1024T>G	ENSP00000459882.2:n.*1024T>G
ENST00000566069.6:c.*174T>G	ENSP00000459237.2:n.*174T>G
ENST00000697377.2:c.3383T>G	ENSP00000513286.2:p.Ile1128Arg
ENST00000697379.2:c.3545T>G	ENSP00000513287.2:p.Ile1182Arg
ENST00000561514.2:c.2654T>G	ENSP00000460666.2:p.Ile885Arg
ENST00000697374.1:c.2654T>G	ENSP00000513284.1:p.Ile885Arg
ENST00000697375.1:n.4886T>G
ENST00000697376.1:c.*174T>G	ENSP00000513285.1:n.*174T>G
ENST00000697377.1:c.2492T>G	ENSP00000513286.1:p.Ile831Arg
ENST00000697378.1:n.4059T>G
ENST00000697379.1:c.2654T>G	ENSP00000513287.1:p.Ile885Arg
ENST00000697380.1:n.2743T>G
ENST00000697381.1:n.2234T>G
ENST00000697382.1:c.*316T>G	ENSP00000513288.1:n.*316T>G
ENST00000697383.1:c.1073T>G	ENSP00000513289.1:p.Ile358Arg
ENST00000261584.9:c.3539T>G MANE Select	ENSP00000261584.4:p.Ile1180Arg
ENST00000261584.8:c.3539T>G	ENSP00000261584.4:p.Ile1180Arg
ENST00000566069.5:c.305T>G
ENST00000568219.5:c.2654T>G	ENSP00000454703.2:p.Ile885Arg
NM_024675.3:c.3539T>G , LRG_308t1:c.3539T>G	NP_078951.2:p.Ile1180Arg
XM_011545946.1:c.3545T>G	XP_011544248.1:p.Ile1182Arg
XM_011545947.1:c.*174T>G	XP_011544249.1:n.*174T>G
XM_011545948.1:c.2654T>G	XP_011544250.1:p.Ile885Arg
XR_950851.1:n.4247T>G
XM_011545946.2:c.3545T>G	XP_011544248.1:p.Ile1182Arg
XM_011545947.2:c.*174T>G	XP_011544249.1:n.*174T>G
XM_011545948.2:c.2654T>G	XP_011544250.1:p.Ile885Arg
XM_017023671.1:c.3308T>G	XP_016879160.1:p.Ile1103Arg
XM_017023672.2:c.3302T>G	XP_016879161.1:p.Ile1101Arg
XM_017023673.2:c.*174T>G	XP_016879162.1:n.*174T>G
NM_024675.4:c.3539T>G MANE Select	NP_078951.2:p.Ile1180Arg