Canonical Allele Identifier: CA395137855
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484186
ClinVar RCV Id: RCV000574725
dbSNP Id: rs1555457845

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603505A>G , CM000678.2:g.23603505A>G GRCh38
NC_000016.9:g.23614826A>G , CM000678.1:g.23614826A>G GRCh37
NC_000016.8:g.23522327A>G NCBI36
NG_007406.1:g.42853T>C , LRG_308:g.42853T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3521T>C ENSP00000460666.3:p.Leu1174Pro
ENST00000565038.2:c.*1000T>C ENSP00000459882.2:n.*1000T>C
ENST00000566069.6:c.*150T>C ENSP00000459237.2:n.*150T>C
ENST00000697377.2:c.3359T>C ENSP00000513286.2:p.Leu1120Pro
ENST00000697379.2:c.3521T>C ENSP00000513287.2:p.Leu1174Pro
ENST00000561514.2:c.2630T>C ENSP00000460666.2:p.Leu877Pro
ENST00000697374.1:c.2630T>C ENSP00000513284.1:p.Leu877Pro
ENST00000697375.1:n.4862T>C
ENST00000697376.1:c.*150T>C ENSP00000513285.1:n.*150T>C
ENST00000697377.1:c.2468T>C ENSP00000513286.1:p.Leu823Pro
ENST00000697378.1:n.4035T>C
ENST00000697379.1:c.2630T>C ENSP00000513287.1:p.Leu877Pro
ENST00000697380.1:n.2719T>C
ENST00000697381.1:n.2210T>C
ENST00000697382.1:c.*292T>C ENSP00000513288.1:n.*292T>C
ENST00000697383.1:c.1049T>C ENSP00000513289.1:p.Leu350Pro
ENST00000261584.9:c.3515T>C MANE Select ENSP00000261584.4:p.Leu1172Pro
ENST00000261584.8:c.3515T>C ENSP00000261584.4:p.Leu1172Pro
ENST00000566069.5:c.281T>C
ENST00000568219.5:c.2630T>C ENSP00000454703.2:p.Leu877Pro
NM_024675.3:c.3515T>C , LRG_308t1:c.3515T>C NP_078951.2:p.Leu1172Pro
XM_011545946.1:c.3521T>C XP_011544248.1:p.Leu1174Pro
XM_011545947.1:c.*150T>C XP_011544249.1:n.*150T>C
XM_011545948.1:c.2630T>C XP_011544250.1:p.Leu877Pro
XR_950851.1:n.4223T>C
XM_011545946.2:c.3521T>C XP_011544248.1:p.Leu1174Pro
XM_011545947.2:c.*150T>C XP_011544249.1:n.*150T>C
XM_011545948.2:c.2630T>C XP_011544250.1:p.Leu877Pro
XM_017023671.1:c.3284T>C XP_016879160.1:p.Leu1095Pro
XM_017023672.2:c.3278T>C XP_016879161.1:p.Leu1093Pro
XM_017023673.2:c.*150T>C XP_016879162.1:n.*150T>C
NM_024675.4:c.3515T>C MANE Select NP_078951.2:p.Leu1172Pro