Canonical Allele Identifier: CA481886250

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112502206T>C , CM000674.2:g.112502206T>C	GRCh38
NC_000012.11:g.112940010T>C , CM000674.1:g.112940010T>C	GRCh37
NC_000012.10:g.111424393T>C	NCBI36
NG_007459.1:g.88475T>C , LRG_614:g.88475T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002834.5:c.1662T>C MANE Select	NP_002825.3:p.Ser554=
ENST00000351677.7:c.1662T>C MANE Select	ENSP00000340944.3:p.Ser554=
NM_001330437.1:c.1674T>C	NP_001317366.1:p.Ser558=
NM_001330437.2:c.1674T>C	NP_001317366.1:p.Ser558=
NM_001374625.1:c.1659T>C	NP_001361554.1:p.Ser553=
NM_002834.3:c.1662T>C , LRG_614t1:c.1662T>C	NP_002825.3:p.Ser554=
NM_002834.4:c.1662T>C	NP_002825.3:p.Ser554=
ENST00000351677.6:c.1662T>C	ENSP00000340944.2:p.Ser554=
ENST00000635625.1:c.1674T>C	ENSP00000489597.1:p.Ser558=
ENST00000639857.2:c.1662T>C	ENSP00000491593.2:p.Ser554=
ENST00000685487.1:c.*864T>C	ENSP00000508503.1:n.*864T>C
ENST00000687120.1:n.1045T>C
ENST00000687906.1:c.1548T>C	ENSP00000509536.1:p.Ser516=
ENST00000688597.1:c.1287T>C	ENSP00000510628.1:p.Ser429=
ENST00000688701.1:n.906T>C
ENST00000690210.1:c.1662T>C	ENSP00000509272.1:p.Ser554=
ENST00000690472.1:n.871T>C
ENST00000692624.1:c.*208T>C	ENSP00000508953.1:n.*208T>C
XM_006719526.1:c.1674T>C	XP_006719589.1:p.Ser558=
XM_006719527.1:c.1560T>C	XP_006719590.1:p.Ser520=
XM_011538613.1:c.1671T>C	XP_011536915.1:p.Ser557=
XM_011538613.2:c.1671T>C	XP_011536915.1:p.Ser557=
XM_017019722.1:c.1659T>C	XP_016875211.1:p.Ser553=