Canonical Allele Identifier: CA386777253

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112486532G>C , CM000674.2:g.112486532G>C	GRCh38
NC_000012.11:g.112924336G>C , CM000674.1:g.112924336G>C	GRCh37
NC_000012.10:g.111408719G>C	NCBI36
NG_007459.1:g.72801G>C , LRG_614:g.72801G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002834.5:c.1282G>C MANE Select	NP_002825.3:p.Val428Leu
ENST00000351677.7:c.1282G>C MANE Select	ENSP00000340944.3:p.Val428Leu
NM_001330437.1:c.1294G>C	NP_001317366.1:p.Val432Leu
NM_001330437.2:c.1294G>C	NP_001317366.1:p.Val432Leu
NM_001374625.1:c.1279G>C	NP_001361554.1:p.Val427Leu
NM_002834.3:c.1282G>C , LRG_614t1:c.1282G>C	NP_002825.3:p.Val428Leu
NM_002834.4:c.1282G>C	NP_002825.3:p.Val428Leu
NM_080601.1:c.1282G>C	NP_542168.1:p.Val428Leu
NM_080601.2:c.1282G>C	NP_542168.1:p.Val428Leu
NM_080601.3:c.1282G>C	NP_542168.1:p.Val428Leu
ENST00000351677.6:c.1282G>C	ENSP00000340944.2:p.Val428Leu
ENST00000392597.5:c.1282G>C	ENSP00000376376.1:p.Val428Leu
ENST00000635625.1:c.1294G>C	ENSP00000489597.1:p.Val432Leu
ENST00000635652.1:c.295G>C	ENSP00000489541.1:p.Val99Leu
ENST00000639857.2:c.1282G>C	ENSP00000491593.2:p.Val428Leu
ENST00000685487.1:c.1282G>C	ENSP00000508503.1:p.Val428Leu
ENST00000687906.1:c.1168G>C	ENSP00000509536.1:p.Val390Leu
ENST00000688597.1:c.1224+4327G>C	ENSP00000510628.1:n.1224+4327G>C
ENST00000690210.1:c.1282G>C	ENSP00000509272.1:p.Val428Leu
ENST00000690472.1:n.491G>C
ENST00000692624.1:c.1282G>C	ENSP00000508953.1:p.Val428Leu
XM_006719526.1:c.1294G>C	XP_006719589.1:p.Val432Leu
XM_006719527.1:c.1180G>C	XP_006719590.1:p.Val394Leu
XM_011538613.1:c.1291G>C	XP_011536915.1:p.Val431Leu
XM_011538613.2:c.1291G>C	XP_011536915.1:p.Val431Leu
XM_017019722.1:c.1279G>C	XP_016875211.1:p.Val427Leu