Canonical Allele Identifier: CA386779671

Gene: PTPN11

Linked Data

• dbSNP Id: rs397507538
• MyVariant Identifiers: chr12:g.112926833G>C (hg19) ; chr12:g.112489029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489029G>C , CM000674.2:g.112489029G>C	GRCh38
NC_000012.11:g.112926833G>C , CM000674.1:g.112926833G>C	GRCh37
NC_000012.10:g.111411216G>C	NCBI36
NG_007459.1:g.75298G>C , LRG_614:g.75298G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1453G>C	ENSP00000491593.2:p.Asp485His
ENST00000685487.1:c.1453G>C	ENSP00000508503.1:p.Asp485His
ENST00000687624.1:n.118G>C
ENST00000687906.1:c.1339G>C	ENSP00000509536.1:p.Asp447His
ENST00000688597.1:c.1224+6824G>C	ENSP00000510628.1:n.1224+6824G>C
ENST00000688701.1:n.697G>C
ENST00000690210.1:c.1453G>C	ENSP00000509272.1:p.Asp485His
ENST00000690472.1:n.662G>C
ENST00000692624.1:c.1385G>C	ENSP00000508953.1:p.Ter462Ser
ENST00000351677.7:c.1453G>C MANE Select	ENSP00000340944.3:p.Asp485His
ENST00000351677.6:c.1453G>C	ENSP00000340944.2:p.Asp485His
ENST00000635625.1:c.1465G>C	ENSP00000489597.1:p.Asp489His
ENST00000635652.1:c.466G>C	ENSP00000489541.1:p.Asp156His
NM_002834.3:c.1453G>C , LRG_614t1:c.1453G>C	NP_002825.3:p.Asp485His
XM_006719526.1:c.1465G>C	XP_006719589.1:p.Asp489His
XM_006719527.1:c.1351G>C	XP_006719590.1:p.Asp451His
XM_011538613.1:c.1462G>C	XP_011536915.1:p.Asp488His
NM_001330437.1:c.1465G>C	NP_001317366.1:p.Asp489His
NM_002834.4:c.1453G>C	NP_002825.3:p.Asp485His
XM_011538613.2:c.1462G>C	XP_011536915.1:p.Asp488His
XM_017019722.1:c.1450G>C	XP_016875211.1:p.Asp484His
NM_001330437.2:c.1465G>C	NP_001317366.1:p.Asp489His
NM_001374625.1:c.1450G>C	NP_001361554.1:p.Asp484His
NM_002834.5:c.1453G>C MANE Select	NP_002825.3:p.Asp485His