Canonical Allele Identifier: CA481882176

Gene: PTPN11

Linked Data

• MyVariant Identifiers: chr12:g.112926871G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489067G>C , CM000674.2:g.112489067G>C	GRCh38
NC_000012.11:g.112926871G>C , CM000674.1:g.112926871G>C	GRCh37
NC_000012.10:g.111411254G>C	NCBI36
NG_007459.1:g.75336G>C , LRG_614:g.75336G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1491G>C	ENSP00000491593.2:p.Val497=
ENST00000685487.1:c.1491G>C	ENSP00000508503.1:p.Val497=
ENST00000687624.1:n.156G>C
ENST00000687906.1:c.1377G>C	ENSP00000509536.1:p.Val459=
ENST00000688597.1:c.1224+6862G>C	ENSP00000510628.1:n.1224+6862G>C
ENST00000688701.1:n.735G>C
ENST00000690210.1:c.1491G>C	ENSP00000509272.1:p.Val497=
ENST00000690472.1:n.700G>C
ENST00000692624.1:c.*37G>C	ENSP00000508953.1:n.*37G>C
ENST00000351677.7:c.1491G>C MANE Select	ENSP00000340944.3:p.Val497=
ENST00000351677.6:c.1491G>C	ENSP00000340944.2:p.Val497=
ENST00000635625.1:c.1503G>C	ENSP00000489597.1:p.Val501=
ENST00000635652.1:c.504G>C	ENSP00000489541.1:p.Val168=
NM_002834.3:c.1491G>C , LRG_614t1:c.1491G>C	NP_002825.3:p.Val497=
XM_006719526.1:c.1503G>C	XP_006719589.1:p.Val501=
XM_006719527.1:c.1389G>C	XP_006719590.1:p.Val463=
XM_011538613.1:c.1500G>C	XP_011536915.1:p.Val500=
NM_001330437.1:c.1503G>C	NP_001317366.1:p.Val501=
NM_002834.4:c.1491G>C	NP_002825.3:p.Val497=
XM_011538613.2:c.1500G>C	XP_011536915.1:p.Val500=
XM_017019722.1:c.1488G>C	XP_016875211.1:p.Val496=
NM_001330437.2:c.1503G>C	NP_001317366.1:p.Val501=
NM_001374625.1:c.1488G>C	NP_001361554.1:p.Val496=
NM_002834.5:c.1491G>C MANE Select	NP_002825.3:p.Val497=