Canonical Allele Identifier: CA494177779

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23625408A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614087A>G , CM000678.2:g.23614087A>G	GRCh38
NC_000016.9:g.23625408A>G , CM000678.1:g.23625408A>G	GRCh37
NC_000016.8:g.23532909A>G	NCBI36
NG_007406.1:g.32271T>C , LRG_308:g.32271T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3124T>C	ENSP00000460666.3:p.Leu1042=
ENST00000565038.2:c.*599T>C	ENSP00000459882.2:n.*599T>C
ENST00000566069.6:c.3118T>C	ENSP00000459237.2:p.Leu1040=
ENST00000697377.2:c.2962T>C	ENSP00000513286.2:p.Leu988=
ENST00000697379.2:c.3124T>C	ENSP00000513287.2:p.Leu1042=
ENST00000561514.2:c.2233T>C	ENSP00000460666.2:p.Leu745=
ENST00000697374.1:c.2233T>C	ENSP00000513284.1:p.Leu745=
ENST00000697375.1:n.4465T>C
ENST00000697376.1:c.2233T>C	ENSP00000513285.1:p.Leu745=
ENST00000697377.1:c.2071T>C	ENSP00000513286.1:p.Leu691=
ENST00000697378.1:n.3638T>C
ENST00000697379.1:c.2233T>C	ENSP00000513287.1:p.Leu745=
ENST00000697380.1:n.2406-6075T>C
ENST00000697381.1:n.1813T>C
ENST00000697382.1:c.2229-6075T>C	ENSP00000513288.1:n.2229-6075T>C
ENST00000697383.1:c.652T>C	ENSP00000513289.1:p.Leu218=
ENST00000261584.9:c.3118T>C MANE Select	ENSP00000261584.4:p.Leu1040=
ENST00000261584.8:c.3118T>C	ENSP00000261584.4:p.Leu1040=
ENST00000566069.5:c.33T>C
ENST00000568219.5:c.2233T>C	ENSP00000454703.2:p.Leu745=
NM_024675.3:c.3118T>C , LRG_308t1:c.3118T>C	NP_078951.2:p.Leu1040=
XM_011545946.1:c.3124T>C	XP_011544248.1:p.Leu1042=
XM_011545947.1:c.3124T>C	XP_011544249.1:p.Leu1042=
XM_011545948.1:c.2233T>C	XP_011544250.1:p.Leu745=
XR_950851.1:n.3910-6075T>C
XM_011545946.2:c.3124T>C	XP_011544248.1:p.Leu1042=
XM_011545947.2:c.3124T>C	XP_011544249.1:p.Leu1042=
XM_011545948.2:c.2233T>C	XP_011544250.1:p.Leu745=
XM_017023671.1:c.3119+7275T>C	XP_016879160.1:n.3119+7275T>C
XM_017023672.2:c.3113+7275T>C	XP_016879161.1:n.3113+7275T>C
XM_017023673.2:c.3118T>C	XP_016879162.1:p.Leu1040=
NM_024675.4:c.3118T>C MANE Select	NP_078951.2:p.Leu1040=