Canonical Allele Identifier: CA395137613

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614787T>G (hg19) ; chr16:g.23603466T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603466T>G , CM000678.2:g.23603466T>G	GRCh38
NC_000016.9:g.23614787T>G , CM000678.1:g.23614787T>G	GRCh37
NC_000016.8:g.23522288T>G	NCBI36
NG_007406.1:g.42892A>C , LRG_308:g.42892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3560A>C	ENSP00000460666.3:p.Tyr1187Ser
ENST00000565038.2:c.*1039A>C	ENSP00000459882.2:n.*1039A>C
ENST00000566069.6:c.*189A>C	ENSP00000459237.2:n.*189A>C
ENST00000697377.2:c.3398A>C	ENSP00000513286.2:p.Tyr1133Ser
ENST00000697379.2:c.3560A>C	ENSP00000513287.2:p.Tyr1187Ser
ENST00000561514.2:c.2669A>C	ENSP00000460666.2:p.Tyr890Ser
ENST00000697374.1:c.2669A>C	ENSP00000513284.1:p.Tyr890Ser
ENST00000697375.1:n.4901A>C
ENST00000697376.1:c.*189A>C	ENSP00000513285.1:n.*189A>C
ENST00000697377.1:c.2507A>C	ENSP00000513286.1:p.Tyr836Ser
ENST00000697378.1:n.4074A>C
ENST00000697379.1:c.2669A>C	ENSP00000513287.1:p.Tyr890Ser
ENST00000697380.1:n.2758A>C
ENST00000697381.1:n.2249A>C
ENST00000697382.1:c.*331A>C	ENSP00000513288.1:n.*331A>C
ENST00000697383.1:c.1088A>C	ENSP00000513289.1:p.Tyr363Ser
ENST00000261584.9:c.3554A>C MANE Select	ENSP00000261584.4:p.Tyr1185Ser
ENST00000261584.8:c.3554A>C	ENSP00000261584.4:p.Tyr1185Ser
ENST00000566069.5:c.320A>C
ENST00000568219.5:c.2669A>C	ENSP00000454703.2:p.Tyr890Ser
NM_024675.3:c.3554A>C , LRG_308t1:c.3554A>C	NP_078951.2:p.Tyr1185Ser
XM_011545946.1:c.3560A>C	XP_011544248.1:p.Tyr1187Ser
XM_011545947.1:c.*189A>C	XP_011544249.1:n.*189A>C
XM_011545948.1:c.2669A>C	XP_011544250.1:p.Tyr890Ser
XR_950851.1:n.4262A>C
XM_011545946.2:c.3560A>C	XP_011544248.1:p.Tyr1187Ser
XM_011545947.2:c.*189A>C	XP_011544249.1:n.*189A>C
XM_011545948.2:c.2669A>C	XP_011544250.1:p.Tyr890Ser
XM_017023671.1:c.3323A>C	XP_016879160.1:p.Tyr1108Ser
XM_017023672.2:c.3317A>C	XP_016879161.1:p.Tyr1106Ser
XM_017023673.2:c.*189A>C	XP_016879162.1:n.*189A>C
NM_024675.4:c.3554A>C MANE Select	NP_078951.2:p.Tyr1185Ser