Canonical Allele Identifier: CA10846864
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2476599

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113820837G>A , CM000663.2:g.113820837G>A GRCh38
NC_000001.10:g.114363459G>A , CM000663.1:g.114363459G>A GRCh37
NC_000001.9:g.114164982G>A NCBI36
NG_011432.1:g.55917C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000359785.10:c.2282-1183C>T ENSP00000352833.5:p.=
ENST00000359785.9:c.2282-1183C>T ENSP00000352833.5:p.=
ENST00000420377.6:c.2282-1183C>T ENSP00000388229.2:p.=
ENST00000460620.5:c.469-1183C>T ENSP00000433141.1:p.=
ENST00000525799.1:c.1901-1183C>T ENSP00000432674.1:p.=
ENST00000528414.5:c.2117-1183C>T ENSP00000435176.1:p.=
ENST00000532224.5:c.*1560-1183C>T ENSP00000431249.1:p.=
ENST00000538253.5:c.2210-1183C>T ENSP00000439372.2:p.=
NM_001193431.1:c.2198-1183C>T (PTPN22) NP_001180360.1:p.=
NM_001193431.2:c.2198-1183C>T (PTPN22) NP_001180360.1:p.=
NM_001308297.1:c.2210-1183C>T (PTPN22) NP_001295226.1:p.=
NM_012411.4:c.2117-1183C>T (PTPN22) NP_036543.4:p.=
NM_012411.5:c.2117-1183C>T (PTPN22) NP_036543.4:p.=
NM_015967.5:c.2282-1183C>T (PTPN22) NP_057051.3:p.=
NM_015967.6:c.2282-1183C>T (PTPN22) NP_057051.3:p.=
NR_125965.1:n.414+5365G>A (AP4B1-AS1)
XM_011541221.1:c.2204-1183C>T (PTPN22) XP_011539523.1:p.=
XM_011541222.1:c.2251-1183C>T (PTPN22) XP_011539524.1:p.=
XM_011541224.1:c.1838-1183C>T (PTPN22) XP_011539526.1:p.=
XM_011541225.1:c.2179-1183C>T (PTPN22) XP_011539527.1:p.=
XM_011541225.2:c.2179-1183C>T (PTPN22) XP_011539527.1:p.=
XM_017001005.2:c.1937-1183C>T (PTPN22) XP_016856494.1:p.=
NM_015967.7:c.2282-1183C>T (PTPN22) NP_057051.3:p.=