Canonical Allele Identifier: CA386779980

Gene: PTPN11

Linked Data

• MyVariant Identifiers: chr12:g.112926926A>C (hg19) ; chr12:g.112489122A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489122A>C , CM000674.2:g.112489122A>C	GRCh38
NC_000012.11:g.112926926A>C , CM000674.1:g.112926926A>C	GRCh37
NC_000012.10:g.111411309A>C	NCBI36
NG_007459.1:g.75391A>C , LRG_614:g.75391A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1546A>C	ENSP00000491593.2:p.Met516Leu
ENST00000685487.1:c.1546A>C	ENSP00000508503.1:p.Met516Leu
ENST00000687624.1:n.211A>C
ENST00000687906.1:c.1432A>C	ENSP00000509536.1:p.Met478Leu
ENST00000688597.1:c.1224+6917A>C	ENSP00000510628.1:n.1224+6917A>C
ENST00000688701.1:n.790A>C
ENST00000690210.1:c.1546A>C	ENSP00000509272.1:p.Met516Leu
ENST00000690472.1:n.755A>C
ENST00000692624.1:c.*92A>C	ENSP00000508953.1:n.*92A>C
ENST00000351677.7:c.1546A>C MANE Select	ENSP00000340944.3:p.Met516Leu
ENST00000351677.6:c.1546A>C	ENSP00000340944.2:p.Met516Leu
ENST00000635625.1:c.1558A>C	ENSP00000489597.1:p.Met520Leu
ENST00000635652.1:c.559A>C	ENSP00000489541.1:p.Met187Leu
NM_002834.3:c.1546A>C , LRG_614t1:c.1546A>C	NP_002825.3:p.Met516Leu
XM_006719526.1:c.1558A>C	XP_006719589.1:p.Met520Leu
XM_006719527.1:c.1444A>C	XP_006719590.1:p.Met482Leu
XM_011538613.1:c.1555A>C	XP_011536915.1:p.Met519Leu
NM_001330437.1:c.1558A>C	NP_001317366.1:p.Met520Leu
NM_002834.4:c.1546A>C	NP_002825.3:p.Met516Leu
XM_011538613.2:c.1555A>C	XP_011536915.1:p.Met519Leu
XM_017019722.1:c.1543A>C	XP_016875211.1:p.Met515Leu
NM_001330437.2:c.1558A>C	NP_001317366.1:p.Met520Leu
NM_001374625.1:c.1543A>C	NP_001361554.1:p.Met515Leu
NM_002834.5:c.1546A>C MANE Select	NP_002825.3:p.Met516Leu