Canonical Allele Identifier: CA386783533

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112502229C>T , CM000674.2:g.112502229C>T	GRCh38
NC_000012.11:g.112940033C>T , CM000674.1:g.112940033C>T	GRCh37
NC_000012.10:g.111424416C>T	NCBI36
NG_007459.1:g.88498C>T , LRG_614:g.88498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1685C>T	ENSP00000491593.2:p.Pro562Leu
ENST00000685487.1:c.*887C>T	ENSP00000508503.1:n.*887C>T
ENST00000687120.1:n.1068C>T
ENST00000687906.1:c.1571C>T	ENSP00000509536.1:p.Pro524Leu
ENST00000688597.1:c.1310C>T	ENSP00000510628.1:p.Pro437Leu
ENST00000688701.1:n.929C>T
ENST00000690210.1:c.1685C>T	ENSP00000509272.1:p.Pro562Leu
ENST00000690472.1:n.894C>T
ENST00000692624.1:c.*231C>T	ENSP00000508953.1:n.*231C>T
ENST00000351677.7:c.1685C>T MANE Select	ENSP00000340944.3:p.Pro562Leu
ENST00000351677.6:c.1685C>T	ENSP00000340944.2:p.Pro562Leu
ENST00000635625.1:c.1697C>T	ENSP00000489597.1:p.Pro566Leu
NM_002834.3:c.1685C>T , LRG_614t1:c.1685C>T	NP_002825.3:p.Pro562Leu
XM_006719526.1:c.1697C>T	XP_006719589.1:p.Pro566Leu
XM_006719527.1:c.1583C>T	XP_006719590.1:p.Pro528Leu
XM_011538613.1:c.1694C>T	XP_011536915.1:p.Pro565Leu
NM_001330437.1:c.1697C>T	NP_001317366.1:p.Pro566Leu
NM_002834.4:c.1685C>T	NP_002825.3:p.Pro562Leu
XM_011538613.2:c.1694C>T	XP_011536915.1:p.Pro565Leu
XM_017019722.1:c.1682C>T	XP_016875211.1:p.Pro561Leu
NM_001330437.2:c.1697C>T	NP_001317366.1:p.Pro566Leu
NM_001374625.1:c.1682C>T	NP_001361554.1:p.Pro561Leu
NM_002834.5:c.1685C>T MANE Select	NP_002825.3:p.Pro562Leu