Canonical Allele Identifier: CA386790985

Gene: PTPN11

Linked Data

• dbSNP Id: rs1294377445
• gnomAD v4: 12-112477858-C-T
• MyVariant Identifiers: chr12:g.112915662C>T (hg19) ; chr12:g.112477858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112477858C>T , CM000674.2:g.112477858C>T	GRCh38
NC_000012.11:g.112915662C>T , CM000674.1:g.112915662C>T	GRCh37
NC_000012.10:g.111400045C>T	NCBI36
NG_007459.1:g.64127C>T , LRG_614:g.64127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.935C>T	ENSP00000491593.2:p.Pro312Leu
ENST00000685487.1:c.935C>T	ENSP00000508503.1:p.Pro312Leu
ENST00000687906.1:c.821C>T	ENSP00000509536.1:p.Pro274Leu
ENST00000688597.1:c.935C>T	ENSP00000510628.1:p.Pro312Leu
ENST00000690210.1:c.935C>T	ENSP00000509272.1:p.Pro312Leu
ENST00000692624.1:c.935C>T	ENSP00000508953.1:p.Pro312Leu
ENST00000351677.7:c.935C>T MANE Select	ENSP00000340944.3:p.Pro312Leu
ENST00000351677.6:c.935C>T	ENSP00000340944.2:p.Pro312Leu
ENST00000392597.5:c.935C>T	ENSP00000376376.1:p.Pro312Leu
ENST00000635625.1:c.935C>T	ENSP00000489597.1:p.Pro312Leu
NM_002834.3:c.935C>T , LRG_614t1:c.935C>T	NP_002825.3:p.Pro312Leu
NM_080601.1:c.935C>T	NP_542168.1:p.Pro312Leu
XM_006719526.1:c.935C>T	XP_006719589.1:p.Pro312Leu
XM_006719527.1:c.821C>T	XP_006719590.1:p.Pro274Leu
XM_011538613.1:c.932C>T	XP_011536915.1:p.Pro311Leu
NM_001330437.1:c.935C>T	NP_001317366.1:p.Pro312Leu
NM_002834.4:c.935C>T	NP_002825.3:p.Pro312Leu
NM_080601.2:c.935C>T	NP_542168.1:p.Pro312Leu
XM_011538613.2:c.932C>T	XP_011536915.1:p.Pro311Leu
XM_017019722.1:c.932C>T	XP_016875211.1:p.Pro311Leu
NM_001330437.2:c.935C>T	NP_001317366.1:p.Pro312Leu
NM_001374625.1:c.932C>T	NP_001361554.1:p.Pro311Leu
NM_002834.5:c.935C>T MANE Select	NP_002825.3:p.Pro312Leu
NM_080601.3:c.935C>T	NP_542168.1:p.Pro312Leu