Canonical Allele Identifier: CA607380484

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112506474T>C , CM000674.2:g.112506474T>C	GRCh38
NC_000012.11:g.112944278T>C , CM000674.1:g.112944278T>C	GRCh37
NC_000012.10:g.111428661T>C	NCBI36
NG_007459.1:g.92743T>C , LRG_614:g.92743T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.*625T>C	ENSP00000491593.2:n.*625T>C
ENST00000685487.1:c.*1666T>C	ENSP00000508503.1:n.*1666T>C
ENST00000687120.1:n.4285T>C
ENST00000687906.1:c.*682T>C	ENSP00000509536.1:n.*682T>C
ENST00000688597.1:c.*682T>C	ENSP00000510628.1:n.*682T>C
ENST00000688701.1:n.1708T>C
ENST00000690210.1:c.*682T>C	ENSP00000509272.1:n.*682T>C
ENST00000690472.1:n.1673T>C
ENST00000692624.1:c.*1010T>C	ENSP00000508953.1:n.*1010T>C
ENST00000351677.7:c.*682T>C MANE Select	ENSP00000340944.3:n.*682T>C
ENST00000351677.6:c.*682T>C	ENSP00000340944.2:n.*682T>C
NM_002834.3:c.*682T>C , LRG_614t1:c.*682T>C	NP_002825.3:n.*682T>C
XM_006719526.1:c.*682T>C	XP_006719589.1:n.*682T>C
XM_006719527.1:c.*682T>C	XP_006719590.1:n.*682T>C
XM_011538613.1:c.*682T>C	XP_011536915.1:n.*682T>C
NM_001330437.1:c.*682T>C	NP_001317366.1:n.*682T>C
NM_002834.4:c.*682T>C	NP_002825.3:n.*682T>C
XM_011538613.2:c.*682T>C	XP_011536915.1:n.*682T>C
XM_017019722.1:c.*682T>C	XP_016875211.1:n.*682T>C
NM_001330437.2:c.*682T>C	NP_001317366.1:n.*682T>C
NM_001374625.1:c.*682T>C	NP_001361554.1:n.*682T>C
NM_002834.5:c.*682T>C MANE Select	NP_002825.3:n.*682T>C