Canonical Allele Identifier: CA395141144

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23652454G>T (hg19) ; chr16:g.23641133G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641133G>T , CM000678.2:g.23641133G>T	GRCh38
NC_000016.9:g.23652454G>T , CM000678.1:g.23652454G>T	GRCh37
NC_000016.8:g.23559955G>T	NCBI36
NG_007406.1:g.5225C>A , LRG_308:g.5225C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-828C>A	ENSP00000460666.3:n.-828C>A
ENST00000565038.2:c.25C>A	ENSP00000459882.2:p.Leu9Ile
ENST00000566069.6:c.25C>A	ENSP00000459237.2:p.Leu9Ile
ENST00000697377.2:c.-215C>A	ENSP00000513286.2:n.-215C>A
ENST00000697379.2:c.-121C>A	ENSP00000513287.2:n.-121C>A
ENST00000561514.2:c.-1719C>A	ENSP00000460666.2:n.-1719C>A
ENST00000697374.1:c.-1310C>A	ENSP00000513284.1:n.-1310C>A
ENST00000697376.1:c.-1031C>A	ENSP00000513285.1:n.-1031C>A
ENST00000697377.1:c.-1106C>A	ENSP00000513286.1:n.-1106C>A
ENST00000697379.1:c.-1012C>A	ENSP00000513287.1:n.-1012C>A
ENST00000697382.1:c.-1770C>A	ENSP00000513288.1:n.-1770C>A
ENST00000697383.1:c.25C>A	ENSP00000513289.1:p.Leu9Ile
ENST00000697384.1:n.179C>A
ENST00000261584.9:c.25C>A MANE Select	ENSP00000261584.4:p.Leu9Ile
ENST00000261584.8:c.25C>A	ENSP00000261584.4:p.Leu9Ile
ENST00000567003.1:n.169C>A
ENST00000568219.5:c.-844C>A	ENSP00000454703.2:n.-844C>A
NM_024675.3:c.25C>A , LRG_308t1:c.25C>A	NP_078951.2:p.Leu9Ile
XM_011545948.1:c.-995C>A	XP_011544250.1:n.-995C>A
XM_011545946.2:c.-828C>A	XP_011544248.1:n.-828C>A
XM_011545947.2:c.-828C>A	XP_011544249.1:n.-828C>A
XM_011545948.2:c.-995C>A	XP_011544250.1:n.-995C>A
XM_017023671.1:c.-828C>A	XP_016879160.1:n.-828C>A
XM_017023672.2:c.25C>A	XP_016879161.1:p.Leu9Ile
XM_017023673.2:c.25C>A	XP_016879162.1:p.Leu9Ile
NM_024675.4:c.25C>A MANE Select	NP_078951.2:p.Leu9Ile