Canonical Allele Identifier: CA395142761

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23632685A>C (hg19) ; chr16:g.23621364A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621364A>C , CM000678.2:g.23621364A>C	GRCh38
NC_000016.9:g.23632685A>C , CM000678.1:g.23632685A>C	GRCh37
NC_000016.8:g.23540186A>C	NCBI36
NG_007406.1:g.24994T>G , LRG_308:g.24994T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3117T>G	ENSP00000460666.3:p.Ile1039Met
ENST00000565038.2:c.*592T>G	ENSP00000459882.2:n.*592T>G
ENST00000566069.6:c.3111T>G	ENSP00000459237.2:p.Ile1037Met
ENST00000697377.2:c.2955T>G	ENSP00000513286.2:p.Ile985Met
ENST00000697379.2:c.3117T>G	ENSP00000513287.2:p.Ile1039Met
ENST00000561514.2:c.2226T>G	ENSP00000460666.2:p.Ile742Met
ENST00000697374.1:c.2226T>G	ENSP00000513284.1:p.Ile742Met
ENST00000697375.1:n.4458T>G
ENST00000697376.1:c.2226T>G	ENSP00000513285.1:p.Ile742Met
ENST00000697377.1:c.2064T>G	ENSP00000513286.1:p.Ile688Met
ENST00000697378.1:n.3631T>G
ENST00000697379.1:c.2226T>G	ENSP00000513287.1:p.Ile742Met
ENST00000697380.1:n.2403T>G
ENST00000697381.1:n.1806T>G
ENST00000697382.1:c.2226T>G	ENSP00000513288.1:p.Ile742Met
ENST00000697383.1:c.645T>G	ENSP00000513289.1:p.Ile215Met
ENST00000261584.9:c.3111T>G MANE Select	ENSP00000261584.4:p.Ile1037Met
ENST00000261584.8:c.3111T>G	ENSP00000261584.4:p.Ile1037Met
ENST00000566069.5:c.26T>G
ENST00000568219.5:c.2226T>G	ENSP00000454703.2:p.Ile742Met
NM_024675.3:c.3111T>G , LRG_308t1:c.3111T>G	NP_078951.2:p.Ile1037Met
XM_011545946.1:c.3117T>G	XP_011544248.1:p.Ile1039Met
XM_011545947.1:c.3117T>G	XP_011544249.1:p.Ile1039Met
XM_011545948.1:c.2226T>G	XP_011544250.1:p.Ile742Met
XR_950851.1:n.3907T>G
XM_011545946.2:c.3117T>G	XP_011544248.1:p.Ile1039Met
XM_011545947.2:c.3117T>G	XP_011544249.1:p.Ile1039Met
XM_011545948.2:c.2226T>G	XP_011544250.1:p.Ile742Met
XM_017023671.1:c.3117T>G	XP_016879160.1:p.Ile1039Met
XM_017023672.2:c.3111T>G	XP_016879161.1:p.Ile1037Met
XM_017023673.2:c.3111T>G	XP_016879162.1:p.Ile1037Met
NM_024675.4:c.3111T>G MANE Select	NP_078951.2:p.Ile1037Met