Canonical Allele Identifier: CA395139668

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23638084G>T , CM000678.2:g.23638084G>T	GRCh38
NC_000016.9:g.23649405G>T , CM000678.1:g.23649405G>T	GRCh37
NC_000016.8:g.23556906G>T	NCBI36
NG_007406.1:g.8274C>A , LRG_308:g.8274C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.94C>A MANE Select	NP_078951.2:p.Leu32Ile
ENST00000261584.9:c.94C>A MANE Select	ENSP00000261584.4:p.Leu32Ile
NM_024675.3:c.94C>A , LRG_308t1:c.94C>A	NP_078951.2:p.Leu32Ile
ENST00000261584.8:c.94C>A	ENSP00000261584.4:p.Leu32Ile
ENST00000561514.1:c.100C>A	ENSP00000460666.1:p.Leu34Ile
ENST00000561514.2:c.-792C>A	ENSP00000460666.2:n.-792C>A
ENST00000561514.3:c.100C>A	ENSP00000460666.3:p.Leu34Ile
ENST00000565038.2:c.94C>A	ENSP00000459882.2:p.Leu32Ile
ENST00000566069.6:c.94C>A	ENSP00000459237.2:p.Leu32Ile
ENST00000567003.1:n.372C>A
ENST00000568219.5:c.-792C>A	ENSP00000454703.2:n.-792C>A
ENST00000697374.1:c.-792C>A	ENSP00000513284.1:n.-792C>A
ENST00000697375.1:n.1441C>A
ENST00000697376.1:c.-828C>A	ENSP00000513285.1:n.-828C>A
ENST00000697377.1:c.-792C>A	ENSP00000513286.1:n.-792C>A
ENST00000697377.2:c.100C>A	ENSP00000513286.2:p.Leu34Ile
ENST00000697378.1:n.614C>A
ENST00000697379.1:c.-792C>A	ENSP00000513287.1:n.-792C>A
ENST00000697379.2:c.100C>A	ENSP00000513287.2:p.Leu34Ile
ENST00000697382.1:c.-792C>A	ENSP00000513288.1:n.-792C>A
ENST00000697383.1:c.48+3026C>A	ENSP00000513289.1:n.48+3026C>A
ENST00000697384.1:n.248C>A
XM_011545946.1:c.100C>A	XP_011544248.1:p.Leu34Ile
XM_011545946.2:c.100C>A	XP_011544248.1:p.Leu34Ile
XM_011545947.1:c.100C>A	XP_011544249.1:p.Leu34Ile
XM_011545947.2:c.100C>A	XP_011544249.1:p.Leu34Ile
XM_011545948.1:c.-792C>A	XP_011544250.1:n.-792C>A
XM_011545948.2:c.-792C>A	XP_011544250.1:n.-792C>A
XM_017023671.1:c.100C>A	XP_016879160.1:p.Leu34Ile
XM_017023672.2:c.94C>A	XP_016879161.1:p.Leu32Ile
XM_017023673.2:c.94C>A	XP_016879162.1:p.Leu32Ile
XR_950851.1:n.890C>A