Canonical Allele Identifier: CA395137639

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614790T>A (hg19) ; chr16:g.23603469T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603469T>A , CM000678.2:g.23603469T>A	GRCh38
NC_000016.9:g.23614790T>A , CM000678.1:g.23614790T>A	GRCh37
NC_000016.8:g.23522291T>A	NCBI36
NG_007406.1:g.42889A>T , LRG_308:g.42889A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3557A>T	ENSP00000460666.3:p.His1186Leu
ENST00000565038.2:c.*1036A>T	ENSP00000459882.2:n.*1036A>T
ENST00000566069.6:c.*186A>T	ENSP00000459237.2:n.*186A>T
ENST00000697377.2:c.3395A>T	ENSP00000513286.2:p.His1132Leu
ENST00000697379.2:c.3557A>T	ENSP00000513287.2:p.His1186Leu
ENST00000561514.2:c.2666A>T	ENSP00000460666.2:p.His889Leu
ENST00000697374.1:c.2666A>T	ENSP00000513284.1:p.His889Leu
ENST00000697375.1:n.4898A>T
ENST00000697376.1:c.*186A>T	ENSP00000513285.1:n.*186A>T
ENST00000697377.1:c.2504A>T	ENSP00000513286.1:p.His835Leu
ENST00000697378.1:n.4071A>T
ENST00000697379.1:c.2666A>T	ENSP00000513287.1:p.His889Leu
ENST00000697380.1:n.2755A>T
ENST00000697381.1:n.2246A>T
ENST00000697382.1:c.*328A>T	ENSP00000513288.1:n.*328A>T
ENST00000697383.1:c.1085A>T	ENSP00000513289.1:p.His362Leu
ENST00000261584.9:c.3551A>T MANE Select	ENSP00000261584.4:p.His1184Leu
ENST00000261584.8:c.3551A>T	ENSP00000261584.4:p.His1184Leu
ENST00000566069.5:c.317A>T
ENST00000568219.5:c.2666A>T	ENSP00000454703.2:p.His889Leu
NM_024675.3:c.3551A>T , LRG_308t1:c.3551A>T	NP_078951.2:p.His1184Leu
XM_011545946.1:c.3557A>T	XP_011544248.1:p.His1186Leu
XM_011545947.1:c.*186A>T	XP_011544249.1:n.*186A>T
XM_011545948.1:c.2666A>T	XP_011544250.1:p.His889Leu
XR_950851.1:n.4259A>T
XM_011545946.2:c.3557A>T	XP_011544248.1:p.His1186Leu
XM_011545947.2:c.*186A>T	XP_011544249.1:n.*186A>T
XM_011545948.2:c.2666A>T	XP_011544250.1:p.His889Leu
XM_017023671.1:c.3320A>T	XP_016879160.1:p.His1107Leu
XM_017023672.2:c.3314A>T	XP_016879161.1:p.His1105Leu
XM_017023673.2:c.*186A>T	XP_016879162.1:n.*186A>T
NM_024675.4:c.3551A>T MANE Select	NP_078951.2:p.His1184Leu