Canonical Allele Identifier: CA341704232

Gene: PTPN22 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113834936-T-C
• MyVariant Identifiers: chr1:g.114377558T>C (hg19) ; chr1:g.113834936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834936T>C , CM000663.2:g.113834936T>C	GRCh38
NC_000001.10:g.114377558T>C , CM000663.1:g.114377558T>C	GRCh37
NC_000001.9:g.114179081T>C	NCBI36
NG_011432.1:g.41818A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.1868A>G (PTPN22) MANE Select	ENSP00000352833.5:p.Glu623Gly
ENST00000359785.9:c.1868A>G (PTPN22)	ENSP00000352833.5:p.Glu623Gly
ENST00000420377.6:c.1868A>G (PTPN22)	ENSP00000388229.2:p.Glu623Gly
ENST00000460620.5:c.469-15282A>G (PTPN22)	ENSP00000433141.1:n.469-15282A>G
ENST00000484147.5:n.1909A>G (PTPN22)
ENST00000525799.1:c.1487A>G (PTPN22)	ENSP00000432674.1:p.Glu496Gly
ENST00000528414.5:c.1703A>G (PTPN22)	ENSP00000435176.1:p.Glu568Gly
ENST00000532224.5:c.*1146A>G (PTPN22)	ENSP00000431249.1:n.*1146A>G
ENST00000538253.5:c.1796A>G (PTPN22)	ENSP00000439372.2:p.Glu599Gly
NM_001193431.1:c.1868A>G (PTPN22)	NP_001180360.1:p.Glu623Gly
NM_001193431.2:c.1868A>G (PTPN22)	NP_001180360.1:p.Glu623Gly
NM_001308297.1:c.1796A>G (PTPN22)	NP_001295226.1:p.Glu599Gly
NM_012411.4:c.1703A>G (PTPN22)	NP_036543.4:p.Glu568Gly
NM_012411.5:c.1703A>G (PTPN22)	NP_036543.4:p.Glu568Gly
NM_015967.5:c.1868A>G (PTPN22)	NP_057051.3:p.Glu623Gly
NM_015967.6:c.1868A>G (PTPN22)	NP_057051.3:p.Glu623Gly
NR_125965.1:n.414+19464T>C (AP4B1-AS1)
XM_011541221.1:c.1790A>G (PTPN22)	XP_011539523.1:p.Glu597Gly
XM_011541222.1:c.1868A>G (PTPN22)	XP_011539524.1:p.Glu623Gly
XM_011541223.1:c.1868A>G (PTPN22)	XP_011539525.1:p.Glu623Gly
XM_011541224.1:c.1424A>G (PTPN22)	XP_011539526.1:p.Glu475Gly
XM_011541225.1:c.1796A>G (PTPN22)	XP_011539527.1:p.Glu599Gly
XM_011541223.2:c.1868A>G (PTPN22)	XP_011539525.1:p.Glu623Gly
XM_011541225.2:c.1796A>G (PTPN22)	XP_011539527.1:p.Glu599Gly
XM_017001004.1:c.1868A>G (PTPN22)	XP_016856493.1:p.Glu623Gly
XM_017001005.2:c.1523A>G (PTPN22)	XP_016856494.1:p.Glu508Gly
NM_015967.7:c.1868A>G (PTPN22)	NP_057051.3:p.Glu623Gly
NM_015967.8:c.1868A>G (PTPN22) MANE Select	NP_057051.4:p.Glu623Gly