Canonical Allele Identifier: CA2621026606

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112488432T>C , CM000674.2:g.112488432T>C	GRCh38
NC_000012.11:g.112926236T>C , CM000674.1:g.112926236T>C	GRCh37
NC_000012.10:g.111410619T>C	NCBI36
NG_007459.1:g.74701T>C , LRG_614:g.74701T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002834.5:c.1380-11T>C MANE Select	NP_002825.3:n.1380-11T>C
ENST00000351677.7:c.1380-11T>C MANE Select	ENSP00000340944.3:n.1380-11T>C
NM_001330437.1:c.1392-11T>C	NP_001317366.1:n.1392-11T>C
NM_001330437.2:c.1392-11T>C	NP_001317366.1:n.1392-11T>C
NM_001374625.1:c.1377-11T>C	NP_001361554.1:n.1377-11T>C
NM_002834.3:c.1380-11T>C , LRG_614t1:c.1380-11T>C	NP_002825.3:n.1380-11T>C
NM_002834.4:c.1380-11T>C	NP_002825.3:n.1380-11T>C
ENST00000351677.6:c.1380-11T>C	ENSP00000340944.2:n.1380-11T>C
ENST00000635625.1:c.1392-11T>C	ENSP00000489597.1:n.1392-11T>C
ENST00000635652.1:c.393-11T>C	ENSP00000489541.1:n.393-11T>C
ENST00000639857.2:c.1380-11T>C	ENSP00000491593.2:n.1380-11T>C
ENST00000685487.1:c.1380-11T>C	ENSP00000508503.1:n.1380-11T>C
ENST00000687624.1:n.34T>C
ENST00000687906.1:c.1266-11T>C	ENSP00000509536.1:n.1266-11T>C
ENST00000688597.1:c.1224+6227T>C	ENSP00000510628.1:n.1224+6227T>C
ENST00000688701.1:n.613T>C
ENST00000690210.1:c.1380-11T>C	ENSP00000509272.1:n.1380-11T>C
ENST00000690472.1:n.589-11T>C
ENST00000692624.1:c.1380-592T>C	ENSP00000508953.1:n.1380-592T>C
XM_006719526.1:c.1392-11T>C	XP_006719589.1:n.1392-11T>C
XM_006719527.1:c.1278-11T>C	XP_006719590.1:n.1278-11T>C
XM_011538613.1:c.1389-11T>C	XP_011536915.1:n.1389-11T>C
XM_011538613.2:c.1389-11T>C	XP_011536915.1:n.1389-11T>C
XM_017019722.1:c.1377-11T>C	XP_016875211.1:n.1377-11T>C