Canonical Allele Identifier: CA395138407

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614986G>C (hg19) ; chr16:g.23603665G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603665G>C , CM000678.2:g.23603665G>C	GRCh38
NC_000016.9:g.23614986G>C , CM000678.1:g.23614986G>C	GRCh37
NC_000016.8:g.23522487G>C	NCBI36
NG_007406.1:g.42693C>G , LRG_308:g.42693C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3361C>G	ENSP00000460666.3:p.Leu1121Val
ENST00000565038.2:c.*840C>G	ENSP00000459882.2:n.*840C>G
ENST00000566069.6:c.3206C>G	ENSP00000459237.2:p.Pro1069Arg
ENST00000697377.2:c.3199C>G	ENSP00000513286.2:p.Leu1067Val
ENST00000697379.2:c.3361C>G	ENSP00000513287.2:p.Leu1121Val
ENST00000561514.2:c.2470C>G	ENSP00000460666.2:p.Leu824Val
ENST00000697374.1:c.2470C>G	ENSP00000513284.1:p.Leu824Val
ENST00000697375.1:n.4702C>G
ENST00000697376.1:c.2321C>G	ENSP00000513285.1:p.Pro774Arg
ENST00000697377.1:c.2308C>G	ENSP00000513286.1:p.Leu770Val
ENST00000697378.1:n.3875C>G
ENST00000697379.1:c.2470C>G	ENSP00000513287.1:p.Leu824Val
ENST00000697380.1:n.2559C>G
ENST00000697381.1:n.2050C>G
ENST00000697382.1:c.*132C>G	ENSP00000513288.1:n.*132C>G
ENST00000697383.1:c.889C>G	ENSP00000513289.1:p.Leu297Val
ENST00000261584.9:c.3355C>G MANE Select	ENSP00000261584.4:p.Leu1119Val
ENST00000261584.8:c.3355C>G	ENSP00000261584.4:p.Leu1119Val
ENST00000566069.5:c.121C>G
ENST00000568219.5:c.2470C>G	ENSP00000454703.2:p.Leu824Val
NM_024675.3:c.3355C>G , LRG_308t1:c.3355C>G	NP_078951.2:p.Leu1119Val
XM_011545946.1:c.3361C>G	XP_011544248.1:p.Leu1121Val
XM_011545947.1:c.3212C>G	XP_011544249.1:p.Pro1071Arg
XM_011545948.1:c.2470C>G	XP_011544250.1:p.Leu824Val
XR_950851.1:n.4063C>G
XM_011545946.2:c.3361C>G	XP_011544248.1:p.Leu1121Val
XM_011545947.2:c.3212C>G	XP_011544249.1:p.Pro1071Arg
XM_011545948.2:c.2470C>G	XP_011544250.1:p.Leu824Val
XM_017023671.1:c.3124C>G	XP_016879160.1:p.Leu1042Val
XM_017023672.2:c.3118C>G	XP_016879161.1:p.Leu1040Val
XM_017023673.2:c.3206C>G	XP_016879162.1:p.Pro1069Arg
NM_024675.4:c.3355C>G MANE Select	NP_078951.2:p.Leu1119Val