Canonical Allele Identifier: CA341701738

Gene: PTPN22 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113829975-T-A
• MyVariant Identifiers: chr1:g.114372597T>A (hg19) ; chr1:g.113829975T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113829975T>A , CM000663.2:g.113829975T>A	GRCh38
NC_000001.10:g.114372597T>A , CM000663.1:g.114372597T>A	GRCh37
NC_000001.9:g.114174120T>A	NCBI36
NG_011432.1:g.46779A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.2108A>T (PTPN22) MANE Select	ENSP00000352833.5:p.Glu703Val
ENST00000359785.9:c.2108A>T (PTPN22)	ENSP00000352833.5:p.Glu703Val
ENST00000420377.6:c.2108A>T (PTPN22)	ENSP00000388229.2:p.Glu703Val
ENST00000460620.5:c.469-10321A>T (PTPN22)	ENSP00000433141.1:n.469-10321A>T
ENST00000525799.1:c.1727A>T (PTPN22)	ENSP00000432674.1:p.Glu576Val
ENST00000528414.5:c.1943A>T (PTPN22)	ENSP00000435176.1:p.Glu648Val
ENST00000532224.5:c.*1386A>T (PTPN22)	ENSP00000431249.1:n.*1386A>T
ENST00000538253.5:c.2036A>T (PTPN22)	ENSP00000439372.2:p.Glu679Val
NM_001193431.1:c.2024A>T (PTPN22)	NP_001180360.1:p.Glu675Val
NM_001193431.2:c.2024A>T (PTPN22)	NP_001180360.1:p.Glu675Val
NM_001308297.1:c.2036A>T (PTPN22)	NP_001295226.1:p.Glu679Val
NM_012411.4:c.1943A>T (PTPN22)	NP_036543.4:p.Glu648Val
NM_012411.5:c.1943A>T (PTPN22)	NP_036543.4:p.Glu648Val
NM_015967.5:c.2108A>T (PTPN22)	NP_057051.3:p.Glu703Val
NM_015967.6:c.2108A>T (PTPN22)	NP_057051.3:p.Glu703Val
NR_125965.1:n.414+14503T>A (AP4B1-AS1)
XM_011541221.1:c.2030A>T (PTPN22)	XP_011539523.1:p.Glu677Val
XM_011541222.1:c.2108A>T (PTPN22)	XP_011539524.1:p.Glu703Val
XM_011541224.1:c.1664A>T (PTPN22)	XP_011539526.1:p.Glu555Val
XM_011541225.1:c.2036A>T (PTPN22)	XP_011539527.1:p.Glu679Val
XM_011541225.2:c.2036A>T (PTPN22)	XP_011539527.1:p.Glu679Val
XM_017001004.1:c.2108A>T (PTPN22)	XP_016856493.1:p.Glu703Val
XM_017001005.2:c.1763A>T (PTPN22)	XP_016856494.1:p.Glu588Val
NM_015967.7:c.2108A>T (PTPN22)	NP_057051.3:p.Glu703Val
NM_015967.8:c.2108A>T (PTPN22) MANE Select	NP_057051.4:p.Glu703Val