Canonical Allele Identifier: CA395139274

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23619194T>A (hg19) ; chr16:g.23607873T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607873T>A , CM000678.2:g.23607873T>A	GRCh38
NC_000016.9:g.23619194T>A , CM000678.1:g.23619194T>A	GRCh37
NC_000016.8:g.23526695T>A	NCBI36
NG_007406.1:g.38485A>T , LRG_308:g.38485A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3347A>T	ENSP00000460666.3:p.Gln1116Leu
ENST00000565038.2:c.*822A>T	ENSP00000459882.2:n.*822A>T
ENST00000566069.6:c.3202-4204A>T	ENSP00000459237.2:n.3202-4204A>T
ENST00000697377.2:c.3185A>T	ENSP00000513286.2:p.Gln1062Leu
ENST00000697379.2:c.3347A>T	ENSP00000513287.2:p.Gln1116Leu
ENST00000561514.2:c.2456A>T	ENSP00000460666.2:p.Gln819Leu
ENST00000697374.1:c.2456A>T	ENSP00000513284.1:p.Gln819Leu
ENST00000697375.1:n.4688A>T
ENST00000697376.1:c.2317-4204A>T	ENSP00000513285.1:n.2317-4204A>T
ENST00000697377.1:c.2294A>T	ENSP00000513286.1:p.Gln765Leu
ENST00000697378.1:n.3861A>T
ENST00000697379.1:c.2456A>T	ENSP00000513287.1:p.Gln819Leu
ENST00000697380.1:n.2545A>T
ENST00000697381.1:n.2036A>T
ENST00000697382.1:c.*118A>T	ENSP00000513288.1:n.*118A>T
ENST00000697383.1:c.875A>T	ENSP00000513289.1:p.Gln292Leu
ENST00000261584.9:c.3341A>T MANE Select	ENSP00000261584.4:p.Gln1114Leu
ENST00000261584.8:c.3341A>T	ENSP00000261584.4:p.Gln1114Leu
ENST00000566069.5:c.117-4204A>T
ENST00000568219.5:c.2456A>T	ENSP00000454703.2:p.Gln819Leu
NM_024675.3:c.3341A>T , LRG_308t1:c.3341A>T	NP_078951.2:p.Gln1114Leu
XM_011545946.1:c.3347A>T	XP_011544248.1:p.Gln1116Leu
XM_011545947.1:c.3208-4204A>T	XP_011544249.1:n.3208-4204A>T
XM_011545948.1:c.2456A>T	XP_011544250.1:p.Gln819Leu
XR_950851.1:n.4049A>T
XM_011545946.2:c.3347A>T	XP_011544248.1:p.Gln1116Leu
XM_011545947.2:c.3208-4204A>T	XP_011544249.1:n.3208-4204A>T
XM_011545948.2:c.2456A>T	XP_011544250.1:p.Gln819Leu
XM_017023671.1:c.3120-4204A>T	XP_016879160.1:n.3120-4204A>T
XM_017023672.2:c.3114-4204A>T	XP_016879161.1:n.3114-4204A>T
XM_017023673.2:c.3202-4204A>T	XP_016879162.1:n.3202-4204A>T
NM_024675.4:c.3341A>T MANE Select	NP_078951.2:p.Gln1114Leu