Canonical Allele Identifier: CA419561538
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.114377584G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113834962G>C , CM000663.2:g.113834962G>C GRCh38
NC_000001.10:g.114377584G>C , CM000663.1:g.114377584G>C GRCh37
NC_000001.9:g.114179107G>C NCBI36
NG_011432.1:g.41792C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000359785.10:c.1842C>G (PTPN22) MANE Select ENSP00000352833.5:p.Pro614=
ENST00000359785.9:c.1842C>G (PTPN22) ENSP00000352833.5:p.Pro614=
ENST00000420377.6:c.1842C>G (PTPN22) ENSP00000388229.2:p.Pro614=
ENST00000460620.5:c.469-15308C>G (PTPN22) ENSP00000433141.1:n.469-15308C>G
ENST00000484147.5:n.1883C>G (PTPN22)
ENST00000525799.1:c.1461C>G (PTPN22) ENSP00000432674.1:p.Pro487=
ENST00000528414.5:c.1677C>G (PTPN22) ENSP00000435176.1:p.Pro559=
ENST00000532224.5:c.*1120C>G (PTPN22) ENSP00000431249.1:n.*1120C>G
ENST00000538253.5:c.1770C>G (PTPN22) ENSP00000439372.2:p.Pro590=
NM_001193431.1:c.1842C>G (PTPN22) NP_001180360.1:p.Pro614=
NM_001193431.2:c.1842C>G (PTPN22) NP_001180360.1:p.Pro614=
NM_001308297.1:c.1770C>G (PTPN22) NP_001295226.1:p.Pro590=
NM_012411.4:c.1677C>G (PTPN22) NP_036543.4:p.Pro559=
NM_012411.5:c.1677C>G (PTPN22) NP_036543.4:p.Pro559=
NM_015967.5:c.1842C>G (PTPN22) NP_057051.3:p.Pro614=
NM_015967.6:c.1842C>G (PTPN22) NP_057051.3:p.Pro614=
NR_125965.1:n.414+19490G>C (AP4B1-AS1)
XM_011541221.1:c.1764C>G (PTPN22) XP_011539523.1:p.Pro588=
XM_011541222.1:c.1842C>G (PTPN22) XP_011539524.1:p.Pro614=
XM_011541223.1:c.1842C>G (PTPN22) XP_011539525.1:p.Pro614=
XM_011541224.1:c.1398C>G (PTPN22) XP_011539526.1:p.Pro466=
XM_011541225.1:c.1770C>G (PTPN22) XP_011539527.1:p.Pro590=
XM_011541223.2:c.1842C>G (PTPN22) XP_011539525.1:p.Pro614=
XM_011541225.2:c.1770C>G (PTPN22) XP_011539527.1:p.Pro590=
XM_017001004.1:c.1842C>G (PTPN22) XP_016856493.1:p.Pro614=
XM_017001005.2:c.1497C>G (PTPN22) XP_016856494.1:p.Pro499=
NM_015967.7:c.1842C>G (PTPN22) NP_057051.3:p.Pro614=
NM_015967.8:c.1842C>G (PTPN22) MANE Select NP_057051.4:p.Pro614=