Canonical Allele Identifier: CA341701791

Gene: PTPN22 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114372606C>A (hg19) ; chr1:g.113829984C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113829984C>A , CM000663.2:g.113829984C>A	GRCh38
NC_000001.10:g.114372606C>A , CM000663.1:g.114372606C>A	GRCh37
NC_000001.9:g.114174129C>A	NCBI36
NG_011432.1:g.46770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.2099G>T (PTPN22) MANE Select	ENSP00000352833.5:p.Arg700Ile
ENST00000359785.9:c.2099G>T (PTPN22)	ENSP00000352833.5:p.Arg700Ile
ENST00000420377.6:c.2099G>T (PTPN22)	ENSP00000388229.2:p.Arg700Ile
ENST00000460620.5:c.469-10330G>T (PTPN22)	ENSP00000433141.1:n.469-10330G>T
ENST00000525799.1:c.1718G>T (PTPN22)	ENSP00000432674.1:p.Arg573Ile
ENST00000528414.5:c.1934G>T (PTPN22)	ENSP00000435176.1:p.Arg645Ile
ENST00000532224.5:c.*1377G>T (PTPN22)	ENSP00000431249.1:n.*1377G>T
ENST00000538253.5:c.2027G>T (PTPN22)	ENSP00000439372.2:p.Arg676Ile
NM_001193431.1:c.2015G>T (PTPN22)	NP_001180360.1:p.Arg672Ile
NM_001193431.2:c.2015G>T (PTPN22)	NP_001180360.1:p.Arg672Ile
NM_001308297.1:c.2027G>T (PTPN22)	NP_001295226.1:p.Arg676Ile
NM_012411.4:c.1934G>T (PTPN22)	NP_036543.4:p.Arg645Ile
NM_012411.5:c.1934G>T (PTPN22)	NP_036543.4:p.Arg645Ile
NM_015967.5:c.2099G>T (PTPN22)	NP_057051.3:p.Arg700Ile
NM_015967.6:c.2099G>T (PTPN22)	NP_057051.3:p.Arg700Ile
NR_125965.1:n.414+14512C>A (AP4B1-AS1)
XM_011541221.1:c.2021G>T (PTPN22)	XP_011539523.1:p.Arg674Ile
XM_011541222.1:c.2099G>T (PTPN22)	XP_011539524.1:p.Arg700Ile
XM_011541224.1:c.1655G>T (PTPN22)	XP_011539526.1:p.Arg552Ile
XM_011541225.1:c.2027G>T (PTPN22)	XP_011539527.1:p.Arg676Ile
XM_011541225.2:c.2027G>T (PTPN22)	XP_011539527.1:p.Arg676Ile
XM_017001004.1:c.2099G>T (PTPN22)	XP_016856493.1:p.Arg700Ile
XM_017001005.2:c.1754G>T (PTPN22)	XP_016856494.1:p.Arg585Ile
NM_015967.7:c.2099G>T (PTPN22)	NP_057051.3:p.Arg700Ile
NM_015967.8:c.2099G>T (PTPN22) MANE Select	NP_057051.4:p.Arg700Ile