Canonical Allele Identifier: CA395141151
Community Standard Title: NM_024675.4(PALB2):c.22C>T (p.Pro8Ser)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641136G>A , CM000678.2:g.23641136G>A GRCh38
NC_000016.9:g.23652457G>A , CM000678.1:g.23652457G>A GRCh37
NC_000016.8:g.23559958G>A NCBI36
NG_007406.1:g.5222C>T , LRG_308:g.5222C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.22C>T MANE Select NP_078951.2:p.Pro8Ser
ENST00000261584.9:c.22C>T MANE Select ENSP00000261584.4:p.Pro8Ser
NM_024675.3:c.22C>T , LRG_308t1:c.22C>T NP_078951.2:p.Pro8Ser
ENST00000261584.8:c.22C>T ENSP00000261584.4:p.Pro8Ser
ENST00000561514.2:c.-1722C>T ENSP00000460666.2:n.-1722C>T
ENST00000561514.3:c.-831C>T ENSP00000460666.3:n.-831C>T
ENST00000565038.2:c.22C>T ENSP00000459882.2:p.Pro8Ser
ENST00000566069.6:c.22C>T ENSP00000459237.2:p.Pro8Ser
ENST00000567003.1:n.166C>T
ENST00000568219.5:c.-847C>T ENSP00000454703.2:n.-847C>T
ENST00000697374.1:c.-1313C>T ENSP00000513284.1:n.-1313C>T
ENST00000697376.1:c.-1034C>T ENSP00000513285.1:n.-1034C>T
ENST00000697377.1:c.-1109C>T ENSP00000513286.1:n.-1109C>T
ENST00000697377.2:c.-218C>T ENSP00000513286.2:n.-218C>T
ENST00000697379.1:c.-1015C>T ENSP00000513287.1:n.-1015C>T
ENST00000697379.2:c.-124C>T ENSP00000513287.2:n.-124C>T
ENST00000697382.1:c.-1773C>T ENSP00000513288.1:n.-1773C>T
ENST00000697383.1:c.22C>T ENSP00000513289.1:p.Pro8Ser
ENST00000697384.1:n.176C>T
XM_011545946.2:c.-831C>T XP_011544248.1:n.-831C>T
XM_011545947.2:c.-831C>T XP_011544249.1:n.-831C>T
XM_011545948.1:c.-998C>T XP_011544250.1:n.-998C>T
XM_011545948.2:c.-998C>T XP_011544250.1:n.-998C>T
XM_017023671.1:c.-831C>T XP_016879160.1:n.-831C>T
XM_017023672.2:c.22C>T XP_016879161.1:p.Pro8Ser
XM_017023673.2:c.22C>T XP_016879162.1:p.Pro8Ser