Canonical Allele Identifier: CA419560045
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.114372590G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113829968G>A , CM000663.2:g.113829968G>A GRCh38
NC_000001.10:g.114372590G>A , CM000663.1:g.114372590G>A GRCh37
NC_000001.9:g.114174113G>A NCBI36
NG_011432.1:g.46786C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359785.10:c.2115C>T (PTPN22) MANE Select ENSP00000352833.5:p.Phe705=
ENST00000359785.9:c.2115C>T (PTPN22) ENSP00000352833.5:p.Phe705=
ENST00000420377.6:c.2115C>T (PTPN22) ENSP00000388229.2:p.Phe705=
ENST00000460620.5:c.469-10314C>T (PTPN22) ENSP00000433141.1:n.469-10314C>T
ENST00000525799.1:c.1734C>T (PTPN22) ENSP00000432674.1:p.Phe578=
ENST00000528414.5:c.1950C>T (PTPN22) ENSP00000435176.1:p.Phe650=
ENST00000532224.5:c.*1393C>T (PTPN22) ENSP00000431249.1:n.*1393C>T
ENST00000538253.5:c.2043C>T (PTPN22) ENSP00000439372.2:p.Phe681=
NM_001193431.1:c.2031C>T (PTPN22) NP_001180360.1:p.Phe677=
NM_001193431.2:c.2031C>T (PTPN22) NP_001180360.1:p.Phe677=
NM_001308297.1:c.2043C>T (PTPN22) NP_001295226.1:p.Phe681=
NM_012411.4:c.1950C>T (PTPN22) NP_036543.4:p.Phe650=
NM_012411.5:c.1950C>T (PTPN22) NP_036543.4:p.Phe650=
NM_015967.5:c.2115C>T (PTPN22) NP_057051.3:p.Phe705=
NM_015967.6:c.2115C>T (PTPN22) NP_057051.3:p.Phe705=
NR_125965.1:n.414+14496G>A (AP4B1-AS1)
XM_011541221.1:c.2037C>T (PTPN22) XP_011539523.1:p.Phe679=
XM_011541222.1:c.2115C>T (PTPN22) XP_011539524.1:p.Phe705=
XM_011541224.1:c.1671C>T (PTPN22) XP_011539526.1:p.Phe557=
XM_011541225.1:c.2043C>T (PTPN22) XP_011539527.1:p.Phe681=
XM_011541225.2:c.2043C>T (PTPN22) XP_011539527.1:p.Phe681=
XM_017001004.1:c.2115C>T (PTPN22) XP_016856493.1:p.Phe705=
XM_017001005.2:c.1770C>T (PTPN22) XP_016856494.1:p.Phe590=
NM_015967.7:c.2115C>T (PTPN22) NP_057051.3:p.Phe705=
NM_015967.8:c.2115C>T (PTPN22) MANE Select NP_057051.4:p.Phe705=