Canonical Allele Identifier: CA395138355

Gene: PALB2

Linked Data

• dbSNP Id: rs757118000
• MyVariant Identifiers: chr16:g.23614974C>A (hg19) ; chr16:g.23603653C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603653C>A , CM000678.2:g.23603653C>A	GRCh38
NC_000016.9:g.23614974C>A , CM000678.1:g.23614974C>A	GRCh37
NC_000016.8:g.23522475C>A	NCBI36
NG_007406.1:g.42705G>T , LRG_308:g.42705G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3373G>T	ENSP00000460666.3:p.Val1125Leu
ENST00000565038.2:c.*852G>T	ENSP00000459882.2:n.*852G>T
ENST00000566069.6:c.*2G>T	ENSP00000459237.2:n.*2G>T
ENST00000697377.2:c.3211G>T	ENSP00000513286.2:p.Val1071Leu
ENST00000697379.2:c.3373G>T	ENSP00000513287.2:p.Val1125Leu
ENST00000561514.2:c.2482G>T	ENSP00000460666.2:p.Val828Leu
ENST00000697374.1:c.2482G>T	ENSP00000513284.1:p.Val828Leu
ENST00000697375.1:n.4714G>T
ENST00000697376.1:c.*2G>T	ENSP00000513285.1:n.*2G>T
ENST00000697377.1:c.2320G>T	ENSP00000513286.1:p.Val774Leu
ENST00000697378.1:n.3887G>T
ENST00000697379.1:c.2482G>T	ENSP00000513287.1:p.Val828Leu
ENST00000697380.1:n.2571G>T
ENST00000697381.1:n.2062G>T
ENST00000697382.1:c.*144G>T	ENSP00000513288.1:n.*144G>T
ENST00000697383.1:c.901G>T	ENSP00000513289.1:p.Val301Leu
ENST00000261584.9:c.3367G>T MANE Select	ENSP00000261584.4:p.Val1123Leu
ENST00000261584.8:c.3367G>T	ENSP00000261584.4:p.Val1123Leu
ENST00000566069.5:c.133G>T
ENST00000568219.5:c.2482G>T	ENSP00000454703.2:p.Val828Leu
NM_024675.3:c.3367G>T , LRG_308t1:c.3367G>T	NP_078951.2:p.Val1123Leu
XM_011545946.1:c.3373G>T	XP_011544248.1:p.Val1125Leu
XM_011545947.1:c.*2G>T	XP_011544249.1:n.*2G>T
XM_011545948.1:c.2482G>T	XP_011544250.1:p.Val828Leu
XR_950851.1:n.4075G>T
XM_011545946.2:c.3373G>T	XP_011544248.1:p.Val1125Leu
XM_011545947.2:c.*2G>T	XP_011544249.1:n.*2G>T
XM_011545948.2:c.2482G>T	XP_011544250.1:p.Val828Leu
XM_017023671.1:c.3136G>T	XP_016879160.1:p.Val1046Leu
XM_017023672.2:c.3130G>T	XP_016879161.1:p.Val1044Leu
XM_017023673.2:c.*2G>T	XP_016879162.1:n.*2G>T
NM_024675.4:c.3367G>T MANE Select	NP_078951.2:p.Val1123Leu