Canonical Allele Identifier: CA419560062
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.114372611T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113829989T>G , CM000663.2:g.113829989T>G GRCh38
NC_000001.10:g.114372611T>G , CM000663.1:g.114372611T>G GRCh37
NC_000001.9:g.114174134T>G NCBI36
NG_011432.1:g.46765A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359785.10:c.2094A>C (PTPN22) MANE Select ENSP00000352833.5:p.Pro698=
ENST00000359785.9:c.2094A>C (PTPN22) ENSP00000352833.5:p.Pro698=
ENST00000420377.6:c.2094A>C (PTPN22) ENSP00000388229.2:p.Pro698=
ENST00000460620.5:c.469-10335A>C (PTPN22) ENSP00000433141.1:n.469-10335A>C
ENST00000525799.1:c.1713A>C (PTPN22) ENSP00000432674.1:p.Pro571=
ENST00000528414.5:c.1929A>C (PTPN22) ENSP00000435176.1:p.Pro643=
ENST00000532224.5:c.*1372A>C (PTPN22) ENSP00000431249.1:n.*1372A>C
ENST00000538253.5:c.2022A>C (PTPN22) ENSP00000439372.2:p.Pro674=
NM_001193431.1:c.2010A>C (PTPN22) NP_001180360.1:p.Pro670=
NM_001193431.2:c.2010A>C (PTPN22) NP_001180360.1:p.Pro670=
NM_001308297.1:c.2022A>C (PTPN22) NP_001295226.1:p.Pro674=
NM_012411.4:c.1929A>C (PTPN22) NP_036543.4:p.Pro643=
NM_012411.5:c.1929A>C (PTPN22) NP_036543.4:p.Pro643=
NM_015967.5:c.2094A>C (PTPN22) NP_057051.3:p.Pro698=
NM_015967.6:c.2094A>C (PTPN22) NP_057051.3:p.Pro698=
NR_125965.1:n.414+14517T>G (AP4B1-AS1)
XM_011541221.1:c.2016A>C (PTPN22) XP_011539523.1:p.Pro672=
XM_011541222.1:c.2094A>C (PTPN22) XP_011539524.1:p.Pro698=
XM_011541224.1:c.1650A>C (PTPN22) XP_011539526.1:p.Pro550=
XM_011541225.1:c.2022A>C (PTPN22) XP_011539527.1:p.Pro674=
XM_011541225.2:c.2022A>C (PTPN22) XP_011539527.1:p.Pro674=
XM_017001004.1:c.2094A>C (PTPN22) XP_016856493.1:p.Pro698=
XM_017001005.2:c.1749A>C (PTPN22) XP_016856494.1:p.Pro583=
NM_015967.7:c.2094A>C (PTPN22) NP_057051.3:p.Pro698=
NM_015967.8:c.2094A>C (PTPN22) MANE Select NP_057051.4:p.Pro698=