Canonical Allele Identifier: CA28972360
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1217388

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113821854G>A , CM000663.2:g.113821854G>A GRCh38
NC_000001.9:g.114165999G>A NCBI36
NC_000001.10:g.114364476G>A , CM000663.1:g.114364476G>A GRCh37
NG_011432.1:g.54900C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000359785.9:c.2282-2200C>T ENSP00000352833.5:p.=
ENST00000420377.6:c.2282-2200C>T ENSP00000388229.2:p.=
ENST00000460620.5:c.469-2200C>T ENSP00000433141.1:p.=
ENST00000525799.1:c.1901-2200C>T ENSP00000432674.1:p.=
ENST00000528414.5:c.2117-2200C>T ENSP00000435176.1:p.=
ENST00000532224.5:c.*1560-2200C>T ENSP00000431249.1:p.=
ENST00000538253.5:c.2210-2200C>T ENSP00000439372.2:p.=
NM_001193431.1:c.2198-2200C>T (PTPN22) VV
NM_001193431.2:c.2198-2200C>T (PTPN22) VV NP_001180360.1:p.=
NM_001308297.1:c.2210-2200C>T (PTPN22) VV NP_001295226.1:p.=
NM_012411.4:c.2117-2200C>T (PTPN22) VV
NM_012411.5:c.2117-2200C>T (PTPN22) VV NP_036543.4:p.=
NM_015967.5:c.2282-2200C>T (PTPN22) VV
NM_015967.6:c.2282-2200C>T (PTPN22) VV NP_057051.3:p.=
NR_125965.1:n.414+6382G>A (AP4B1-AS1)
XM_011541221.1:c.2204-2200C>T (PTPN22) XP_011539523.1:p.=
XM_011541222.1:c.2251-2200C>T (PTPN22) XP_011539524.1:p.=
XM_011541224.1:c.1838-2200C>T (PTPN22) XP_011539526.1:p.=
XM_011541225.1:c.2179-2200C>T (PTPN22) XP_011539527.1:p.=