Canonical Allele Identifier: CA395138270

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614952G>T (hg19) ; chr16:g.23603631G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603631G>T , CM000678.2:g.23603631G>T	GRCh38
NC_000016.9:g.23614952G>T , CM000678.1:g.23614952G>T	GRCh37
NC_000016.8:g.23522453G>T	NCBI36
NG_007406.1:g.42727C>A , LRG_308:g.42727C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3395C>A	ENSP00000460666.3:p.Ala1132Glu
ENST00000565038.2:c.*874C>A	ENSP00000459882.2:n.*874C>A
ENST00000566069.6:c.*24C>A	ENSP00000459237.2:n.*24C>A
ENST00000697377.2:c.3233C>A	ENSP00000513286.2:p.Ala1078Glu
ENST00000697379.2:c.3395C>A	ENSP00000513287.2:p.Ala1132Glu
ENST00000561514.2:c.2504C>A	ENSP00000460666.2:p.Ala835Glu
ENST00000697374.1:c.2504C>A	ENSP00000513284.1:p.Ala835Glu
ENST00000697375.1:n.4736C>A
ENST00000697376.1:c.*24C>A	ENSP00000513285.1:n.*24C>A
ENST00000697377.1:c.2342C>A	ENSP00000513286.1:p.Ala781Glu
ENST00000697378.1:n.3909C>A
ENST00000697379.1:c.2504C>A	ENSP00000513287.1:p.Ala835Glu
ENST00000697380.1:n.2593C>A
ENST00000697381.1:n.2084C>A
ENST00000697382.1:c.*166C>A	ENSP00000513288.1:n.*166C>A
ENST00000697383.1:c.923C>A	ENSP00000513289.1:p.Ala308Glu
ENST00000261584.9:c.3389C>A MANE Select	ENSP00000261584.4:p.Ala1130Glu
ENST00000261584.8:c.3389C>A	ENSP00000261584.4:p.Ala1130Glu
ENST00000566069.5:c.155C>A
ENST00000568219.5:c.2504C>A	ENSP00000454703.2:p.Ala835Glu
NM_024675.3:c.3389C>A , LRG_308t1:c.3389C>A	NP_078951.2:p.Ala1130Glu
XM_011545946.1:c.3395C>A	XP_011544248.1:p.Ala1132Glu
XM_011545947.1:c.*24C>A	XP_011544249.1:n.*24C>A
XM_011545948.1:c.2504C>A	XP_011544250.1:p.Ala835Glu
XR_950851.1:n.4097C>A
XM_011545946.2:c.3395C>A	XP_011544248.1:p.Ala1132Glu
XM_011545947.2:c.*24C>A	XP_011544249.1:n.*24C>A
XM_011545948.2:c.2504C>A	XP_011544250.1:p.Ala835Glu
XM_017023671.1:c.3158C>A	XP_016879160.1:p.Ala1053Glu
XM_017023672.2:c.3152C>A	XP_016879161.1:p.Ala1051Glu
XM_017023673.2:c.*24C>A	XP_016879162.1:n.*24C>A
NM_024675.4:c.3389C>A MANE Select	NP_078951.2:p.Ala1130Glu