Canonical Allele Identifier: CA2213433735
Community Standard Title: NM_024675.4(PALB2):c.196C= (p.Gln66=)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637865G= , CM000678.2:g.23637865G= GRCh38
NC_000016.9:g.23649186G= , CM000678.1:g.23649186G= GRCh37
NC_000016.8:g.23556687G= NCBI36
NG_007406.1:g.8493C= , LRG_308:g.8493C=

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.196C= MANE Select NP_078951.2:p.Gln66=
ENST00000261584.9:c.196C= MANE Select ENSP00000261584.4:p.Gln66=
NM_024675.3:c.196C= , LRG_308t1:c.196C= NP_078951.2:p.Gln66=
ENST00000261584.8:c.196C= ENSP00000261584.4:p.Gln66=
ENST00000561514.1:c.202C= ENSP00000460666.1:p.Gln68=
ENST00000561514.2:c.-690C= ENSP00000460666.2:n.-690C=
ENST00000561514.3:c.202C= ENSP00000460666.3:p.Gln68=
ENST00000565038.1:c.71C=
ENST00000565038.2:c.196C= ENSP00000459882.2:p.Gln66=
ENST00000566069.6:c.196C= ENSP00000459237.2:p.Gln66=
ENST00000567003.1:n.474C=
ENST00000568219.5:c.-690C= ENSP00000454703.2:n.-690C=
ENST00000697374.1:c.-690C= ENSP00000513284.1:n.-690C=
ENST00000697375.1:n.1543C=
ENST00000697376.1:c.-690C= ENSP00000513285.1:n.-690C=
ENST00000697377.1:c.-690C= ENSP00000513286.1:n.-690C=
ENST00000697377.2:c.202C= ENSP00000513286.2:p.Gln68=
ENST00000697378.1:n.716C=
ENST00000697379.1:c.-690C= ENSP00000513287.1:n.-690C=
ENST00000697379.2:c.202C= ENSP00000513287.2:p.Gln68=
ENST00000697382.1:c.-690C= ENSP00000513288.1:n.-690C=
ENST00000697383.1:c.48+3245C= ENSP00000513289.1:n.48+3245C=
ENST00000697384.1:n.350C=
XM_011545946.1:c.202C= XP_011544248.1:p.Gln68=
XM_011545946.2:c.202C= XP_011544248.1:p.Gln68=
XM_011545947.1:c.202C= XP_011544249.1:p.Gln68=
XM_011545947.2:c.202C= XP_011544249.1:p.Gln68=
XM_011545948.1:c.-690C= XP_011544250.1:n.-690C=
XM_011545948.2:c.-690C= XP_011544250.1:n.-690C=
XM_017023671.1:c.202C= XP_016879160.1:p.Gln68=
XM_017023672.2:c.196C= XP_016879161.1:p.Gln66=
XM_017023673.2:c.196C= XP_016879162.1:p.Gln66=
XR_950851.1:n.992C=