Canonical Allele Identifier: CA395139794

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2845318
• ClinVar RCV Id: RCV003608221
• MyVariant Identifiers: chr16:g.23619280C>A (hg19) ; chr16:g.23607959C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607959C>A , CM000678.2:g.23607959C>A	GRCh38
NC_000016.9:g.23619280C>A , CM000678.1:g.23619280C>A	GRCh37
NC_000016.8:g.23526781C>A	NCBI36
NG_007406.1:g.38399G>T , LRG_308:g.38399G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3261G>T	ENSP00000460666.3:p.Leu1087Phe
ENST00000565038.2:c.*736G>T	ENSP00000459882.2:n.*736G>T
ENST00000566069.6:c.3202-4290G>T	ENSP00000459237.2:n.3202-4290G>T
ENST00000697377.2:c.3099G>T	ENSP00000513286.2:p.Leu1033Phe
ENST00000697379.2:c.3261G>T	ENSP00000513287.2:p.Leu1087Phe
ENST00000561514.2:c.2370G>T	ENSP00000460666.2:p.Leu790Phe
ENST00000697374.1:c.2370G>T	ENSP00000513284.1:p.Leu790Phe
ENST00000697375.1:n.4602G>T
ENST00000697376.1:c.2317-4290G>T	ENSP00000513285.1:n.2317-4290G>T
ENST00000697377.1:c.2208G>T	ENSP00000513286.1:p.Leu736Phe
ENST00000697378.1:n.3775G>T
ENST00000697379.1:c.2370G>T	ENSP00000513287.1:p.Leu790Phe
ENST00000697380.1:n.2459G>T
ENST00000697381.1:n.1950G>T
ENST00000697382.1:c.*32G>T	ENSP00000513288.1:n.*32G>T
ENST00000697383.1:c.789G>T	ENSP00000513289.1:p.Leu263Phe
ENST00000261584.9:c.3255G>T MANE Select	ENSP00000261584.4:p.Leu1085Phe
ENST00000261584.8:c.3255G>T	ENSP00000261584.4:p.Leu1085Phe
ENST00000566069.5:c.117-4290G>T
ENST00000568219.5:c.2370G>T	ENSP00000454703.2:p.Leu790Phe
NM_024675.3:c.3255G>T , LRG_308t1:c.3255G>T	NP_078951.2:p.Leu1085Phe
XM_011545946.1:c.3261G>T	XP_011544248.1:p.Leu1087Phe
XM_011545947.1:c.3208-4290G>T	XP_011544249.1:n.3208-4290G>T
XM_011545948.1:c.2370G>T	XP_011544250.1:p.Leu790Phe
XR_950851.1:n.3963G>T
XM_011545946.2:c.3261G>T	XP_011544248.1:p.Leu1087Phe
XM_011545947.2:c.3208-4290G>T	XP_011544249.1:n.3208-4290G>T
XM_011545948.2:c.2370G>T	XP_011544250.1:p.Leu790Phe
XM_017023671.1:c.3120-4290G>T	XP_016879160.1:n.3120-4290G>T
XM_017023672.2:c.3114-4290G>T	XP_016879161.1:n.3114-4290G>T
XM_017023673.2:c.3202-4290G>T	XP_016879162.1:n.3202-4290G>T
NM_024675.4:c.3255G>T MANE Select	NP_078951.2:p.Leu1085Phe