Canonical Allele Identifier: CA341701717

Gene: PTPN22 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114372592A>T (hg19) ; chr1:g.113829970A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113829970A>T , CM000663.2:g.113829970A>T	GRCh38
NC_000001.10:g.114372592A>T , CM000663.1:g.114372592A>T	GRCh37
NC_000001.9:g.114174115A>T	NCBI36
NG_011432.1:g.46784T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.2113T>A (PTPN22) MANE Select	ENSP00000352833.5:p.Phe705Ile
ENST00000359785.9:c.2113T>A (PTPN22)	ENSP00000352833.5:p.Phe705Ile
ENST00000420377.6:c.2113T>A (PTPN22)	ENSP00000388229.2:p.Phe705Ile
ENST00000460620.5:c.469-10316T>A (PTPN22)	ENSP00000433141.1:n.469-10316T>A
ENST00000525799.1:c.1732T>A (PTPN22)	ENSP00000432674.1:p.Phe578Ile
ENST00000528414.5:c.1948T>A (PTPN22)	ENSP00000435176.1:p.Phe650Ile
ENST00000532224.5:c.*1391T>A (PTPN22)	ENSP00000431249.1:n.*1391T>A
ENST00000538253.5:c.2041T>A (PTPN22)	ENSP00000439372.2:p.Phe681Ile
NM_001193431.1:c.2029T>A (PTPN22)	NP_001180360.1:p.Phe677Ile
NM_001193431.2:c.2029T>A (PTPN22)	NP_001180360.1:p.Phe677Ile
NM_001308297.1:c.2041T>A (PTPN22)	NP_001295226.1:p.Phe681Ile
NM_012411.4:c.1948T>A (PTPN22)	NP_036543.4:p.Phe650Ile
NM_012411.5:c.1948T>A (PTPN22)	NP_036543.4:p.Phe650Ile
NM_015967.5:c.2113T>A (PTPN22)	NP_057051.3:p.Phe705Ile
NM_015967.6:c.2113T>A (PTPN22)	NP_057051.3:p.Phe705Ile
NR_125965.1:n.414+14498A>T (AP4B1-AS1)
XM_011541221.1:c.2035T>A (PTPN22)	XP_011539523.1:p.Phe679Ile
XM_011541222.1:c.2113T>A (PTPN22)	XP_011539524.1:p.Phe705Ile
XM_011541224.1:c.1669T>A (PTPN22)	XP_011539526.1:p.Phe557Ile
XM_011541225.1:c.2041T>A (PTPN22)	XP_011539527.1:p.Phe681Ile
XM_011541225.2:c.2041T>A (PTPN22)	XP_011539527.1:p.Phe681Ile
XM_017001004.1:c.2113T>A (PTPN22)	XP_016856493.1:p.Phe705Ile
XM_017001005.2:c.1768T>A (PTPN22)	XP_016856494.1:p.Phe590Ile
NM_015967.7:c.2113T>A (PTPN22)	NP_057051.3:p.Phe705Ile
NM_015967.8:c.2113T>A (PTPN22) MANE Select	NP_057051.4:p.Phe705Ile