Canonical Allele Identifier: CA386778296

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112488472T>C , CM000674.2:g.112488472T>C	GRCh38
NC_000012.11:g.112926276T>C , CM000674.1:g.112926276T>C	GRCh37
NC_000012.10:g.111410659T>C	NCBI36
NG_007459.1:g.74741T>C , LRG_614:g.74741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1409T>C	ENSP00000491593.2:p.Ile470Thr
ENST00000685487.1:c.1409T>C	ENSP00000508503.1:p.Ile470Thr
ENST00000687624.1:n.74T>C
ENST00000687906.1:c.1295T>C	ENSP00000509536.1:p.Ile432Thr
ENST00000688597.1:c.1224+6267T>C	ENSP00000510628.1:n.1224+6267T>C
ENST00000688701.1:n.653T>C
ENST00000690210.1:c.1409T>C	ENSP00000509272.1:p.Ile470Thr
ENST00000690472.1:n.618T>C
ENST00000692624.1:c.1380-552T>C	ENSP00000508953.1:n.1380-552T>C
ENST00000351677.7:c.1409T>C MANE Select	ENSP00000340944.3:p.Ile470Thr
ENST00000351677.6:c.1409T>C	ENSP00000340944.2:p.Ile470Thr
ENST00000635625.1:c.1421T>C	ENSP00000489597.1:p.Ile474Thr
ENST00000635652.1:c.422T>C	ENSP00000489541.1:p.Ile141Thr
NM_002834.3:c.1409T>C , LRG_614t1:c.1409T>C	NP_002825.3:p.Ile470Thr
XM_006719526.1:c.1421T>C	XP_006719589.1:p.Ile474Thr
XM_006719527.1:c.1307T>C	XP_006719590.1:p.Ile436Thr
XM_011538613.1:c.1418T>C	XP_011536915.1:p.Ile473Thr
NM_001330437.1:c.1421T>C	NP_001317366.1:p.Ile474Thr
NM_002834.4:c.1409T>C	NP_002825.3:p.Ile470Thr
XM_011538613.2:c.1418T>C	XP_011536915.1:p.Ile473Thr
XM_017019722.1:c.1406T>C	XP_016875211.1:p.Ile469Thr
NM_001330437.2:c.1421T>C	NP_001317366.1:p.Ile474Thr
NM_001374625.1:c.1406T>C	NP_001361554.1:p.Ile469Thr
NM_002834.5:c.1409T>C MANE Select	NP_002825.3:p.Ile470Thr