Canonical Allele Identifier: CA395139098
Community Standard Title: NM_024675.4(PALB2):c.178C>A (p.Gln60Lys)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637883G>T , CM000678.2:g.23637883G>T GRCh38
NC_000016.9:g.23649204G>T , CM000678.1:g.23649204G>T GRCh37
NC_000016.8:g.23556705G>T NCBI36
NG_007406.1:g.8475C>A , LRG_308:g.8475C>A

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.178C>A MANE Select NP_078951.2:p.Gln60Lys
ENST00000261584.9:c.178C>A MANE Select ENSP00000261584.4:p.Gln60Lys
NM_024675.3:c.178C>A , LRG_308t1:c.178C>A NP_078951.2:p.Gln60Lys
ENST00000261584.8:c.178C>A ENSP00000261584.4:p.Gln60Lys
ENST00000561514.1:c.184C>A ENSP00000460666.1:p.Gln62Lys
ENST00000561514.2:c.-708C>A ENSP00000460666.2:n.-708C>A
ENST00000561514.3:c.184C>A ENSP00000460666.3:p.Gln62Lys
ENST00000565038.1:c.53C>A
ENST00000565038.2:c.178C>A ENSP00000459882.2:p.Gln60Lys
ENST00000566069.6:c.178C>A ENSP00000459237.2:p.Gln60Lys
ENST00000567003.1:n.456C>A
ENST00000568219.5:c.-708C>A ENSP00000454703.2:n.-708C>A
ENST00000697374.1:c.-708C>A ENSP00000513284.1:n.-708C>A
ENST00000697375.1:n.1525C>A
ENST00000697376.1:c.-708C>A ENSP00000513285.1:n.-708C>A
ENST00000697377.1:c.-708C>A ENSP00000513286.1:n.-708C>A
ENST00000697377.2:c.184C>A ENSP00000513286.2:p.Gln62Lys
ENST00000697378.1:n.698C>A
ENST00000697379.1:c.-708C>A ENSP00000513287.1:n.-708C>A
ENST00000697379.2:c.184C>A ENSP00000513287.2:p.Gln62Lys
ENST00000697382.1:c.-708C>A ENSP00000513288.1:n.-708C>A
ENST00000697383.1:c.48+3227C>A ENSP00000513289.1:n.48+3227C>A
ENST00000697384.1:n.332C>A
XM_011545946.1:c.184C>A XP_011544248.1:p.Gln62Lys
XM_011545946.2:c.184C>A XP_011544248.1:p.Gln62Lys
XM_011545947.1:c.184C>A XP_011544249.1:p.Gln62Lys
XM_011545947.2:c.184C>A XP_011544249.1:p.Gln62Lys
XM_011545948.1:c.-708C>A XP_011544250.1:n.-708C>A
XM_011545948.2:c.-708C>A XP_011544250.1:n.-708C>A
XM_017023671.1:c.184C>A XP_016879160.1:p.Gln62Lys
XM_017023672.2:c.178C>A XP_016879161.1:p.Gln60Lys
XM_017023673.2:c.178C>A XP_016879162.1:p.Gln60Lys
XR_950851.1:n.974C>A