Canonical Allele Identifier: CA395139209

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23649224T>A (hg19) ; chr16:g.23637903T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23637903T>A , CM000678.2:g.23637903T>A	GRCh38
NC_000016.9:g.23649224T>A , CM000678.1:g.23649224T>A	GRCh37
NC_000016.8:g.23556725T>A	NCBI36
NG_007406.1:g.8455A>T , LRG_308:g.8455A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.164A>T	ENSP00000460666.3:p.Glu55Val
ENST00000565038.2:c.158A>T	ENSP00000459882.2:p.Glu53Val
ENST00000566069.6:c.158A>T	ENSP00000459237.2:p.Glu53Val
ENST00000697377.2:c.164A>T	ENSP00000513286.2:p.Glu55Val
ENST00000697379.2:c.164A>T	ENSP00000513287.2:p.Glu55Val
ENST00000561514.2:c.-728A>T	ENSP00000460666.2:n.-728A>T
ENST00000697374.1:c.-728A>T	ENSP00000513284.1:n.-728A>T
ENST00000697375.1:n.1505A>T
ENST00000697376.1:c.-728A>T	ENSP00000513285.1:n.-728A>T
ENST00000697377.1:c.-728A>T	ENSP00000513286.1:n.-728A>T
ENST00000697378.1:n.678A>T
ENST00000697379.1:c.-728A>T	ENSP00000513287.1:n.-728A>T
ENST00000697382.1:c.-728A>T	ENSP00000513288.1:n.-728A>T
ENST00000697383.1:c.48+3207A>T	ENSP00000513289.1:n.48+3207A>T
ENST00000697384.1:n.312A>T
ENST00000261584.9:c.158A>T MANE Select	ENSP00000261584.4:p.Glu53Val
ENST00000261584.8:c.158A>T	ENSP00000261584.4:p.Glu53Val
ENST00000561514.1:c.164A>T	ENSP00000460666.1:p.Glu55Val
ENST00000565038.1:c.33A>T
ENST00000567003.1:n.436A>T
ENST00000568219.5:c.-728A>T	ENSP00000454703.2:n.-728A>T
NM_024675.3:c.158A>T , LRG_308t1:c.158A>T	NP_078951.2:p.Glu53Val
XM_011545946.1:c.164A>T	XP_011544248.1:p.Glu55Val
XM_011545947.1:c.164A>T	XP_011544249.1:p.Glu55Val
XM_011545948.1:c.-728A>T	XP_011544250.1:n.-728A>T
XR_950851.1:n.954A>T
XM_011545946.2:c.164A>T	XP_011544248.1:p.Glu55Val
XM_011545947.2:c.164A>T	XP_011544249.1:p.Glu55Val
XM_011545948.2:c.-728A>T	XP_011544250.1:n.-728A>T
XM_017023671.1:c.164A>T	XP_016879160.1:p.Glu55Val
XM_017023672.2:c.158A>T	XP_016879161.1:p.Glu53Val
XM_017023673.2:c.158A>T	XP_016879162.1:p.Glu53Val
NM_024675.4:c.158A>T MANE Select	NP_078951.2:p.Glu53Val