Canonical Allele Identifier: CA395141085

Gene: PALB2

Linked Data

• gnomAD v4: 16-23614004-C-A
• MyVariant Identifiers: chr16:g.23625325C>A (hg19) ; chr16:g.23614004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614004C>A , CM000678.2:g.23614004C>A	GRCh38
NC_000016.9:g.23625325C>A , CM000678.1:g.23625325C>A	GRCh37
NC_000016.8:g.23532826C>A	NCBI36
NG_007406.1:g.32354G>T , LRG_308:g.32354G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3207G>T	ENSP00000460666.3:p.Met1069Ile
ENST00000565038.2:c.*682G>T	ENSP00000459882.2:n.*682G>T
ENST00000566069.6:c.3201G>T	ENSP00000459237.2:p.Met1067Ile
ENST00000697377.2:c.3045G>T	ENSP00000513286.2:p.Met1015Ile
ENST00000697379.2:c.3207G>T	ENSP00000513287.2:p.Met1069Ile
ENST00000561514.2:c.2316G>T	ENSP00000460666.2:p.Met772Ile
ENST00000697374.1:c.2316G>T	ENSP00000513284.1:p.Met772Ile
ENST00000697375.1:n.4548G>T
ENST00000697376.1:c.2316G>T	ENSP00000513285.1:p.Met772Ile
ENST00000697377.1:c.2154G>T	ENSP00000513286.1:p.Met718Ile
ENST00000697378.1:n.3721G>T
ENST00000697379.1:c.2316G>T	ENSP00000513287.1:p.Met772Ile
ENST00000697380.1:n.2406-5992G>T
ENST00000697381.1:n.1896G>T
ENST00000697382.1:c.2229-5992G>T	ENSP00000513288.1:n.2229-5992G>T
ENST00000697383.1:c.735G>T	ENSP00000513289.1:p.Met245Ile
ENST00000261584.9:c.3201G>T MANE Select	ENSP00000261584.4:p.Met1067Ile
ENST00000261584.8:c.3201G>T	ENSP00000261584.4:p.Met1067Ile
ENST00000566069.5:c.116G>T
ENST00000568219.5:c.2316G>T	ENSP00000454703.2:p.Met772Ile
NM_024675.3:c.3201G>T , LRG_308t1:c.3201G>T	NP_078951.2:p.Met1067Ile
XM_011545946.1:c.3207G>T	XP_011544248.1:p.Met1069Ile
XM_011545947.1:c.3207G>T	XP_011544249.1:p.Met1069Ile
XM_011545948.1:c.2316G>T	XP_011544250.1:p.Met772Ile
XR_950851.1:n.3910-5992G>T
XM_011545946.2:c.3207G>T	XP_011544248.1:p.Met1069Ile
XM_011545947.2:c.3207G>T	XP_011544249.1:p.Met1069Ile
XM_011545948.2:c.2316G>T	XP_011544250.1:p.Met772Ile
XM_017023671.1:c.3119+7358G>T	XP_016879160.1:n.3119+7358G>T
XM_017023672.2:c.3113+7358G>T	XP_016879161.1:n.3113+7358G>T
XM_017023673.2:c.3201G>T	XP_016879162.1:p.Met1067Ile
NM_024675.4:c.3201G>T MANE Select	NP_078951.2:p.Met1067Ile