Canonical Allele Identifier: CA525390360

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1287333068
• gnomAD v2: 1-114363524-A-G
• MyVariant Identifiers: chr1:g.114363524A>G (hg19) ; chr1:g.113820902A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113820902A>G , CM000663.2:g.113820902A>G	GRCh38
NC_000001.10:g.114363524A>G , CM000663.1:g.114363524A>G	GRCh37
NC_000001.9:g.114165047A>G	NCBI36
NG_011432.1:g.55852T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.2282-1248T>C (PTPN22) MANE Select	ENSP00000352833.5:n.2282-1248T>C
ENST00000359785.9:c.2282-1248T>C (PTPN22)	ENSP00000352833.5:n.2282-1248T>C
ENST00000420377.6:c.2282-1248T>C (PTPN22)	ENSP00000388229.2:n.2282-1248T>C
ENST00000460620.5:c.469-1248T>C (PTPN22)	ENSP00000433141.1:n.469-1248T>C
ENST00000525799.1:c.1901-1248T>C (PTPN22)	ENSP00000432674.1:n.1901-1248T>C
ENST00000528414.5:c.2117-1248T>C (PTPN22)	ENSP00000435176.1:n.2117-1248T>C
ENST00000532224.5:c.*1560-1248T>C (PTPN22)	ENSP00000431249.1:n.*1560-1248T>C
ENST00000538253.5:c.2210-1248T>C (PTPN22)	ENSP00000439372.2:n.2210-1248T>C
NM_001193431.1:c.2198-1248T>C (PTPN22)	NP_001180360.1:n.2198-1248T>C
NM_001193431.2:c.2198-1248T>C (PTPN22)	NP_001180360.1:n.2198-1248T>C
NM_001308297.1:c.2210-1248T>C (PTPN22)	NP_001295226.1:n.2210-1248T>C
NM_012411.4:c.2117-1248T>C (PTPN22)	NP_036543.4:n.2117-1248T>C
NM_012411.5:c.2117-1248T>C (PTPN22)	NP_036543.4:n.2117-1248T>C
NM_015967.5:c.2282-1248T>C (PTPN22)	NP_057051.3:n.2282-1248T>C
NM_015967.6:c.2282-1248T>C (PTPN22)	NP_057051.3:n.2282-1248T>C
NR_125965.1:n.414+5430A>G (AP4B1-AS1)
XM_011541221.1:c.2204-1248T>C (PTPN22)	XP_011539523.1:n.2204-1248T>C
XM_011541222.1:c.2251-1248T>C (PTPN22)	XP_011539524.1:n.2251-1248T>C
XM_011541224.1:c.1838-1248T>C (PTPN22)	XP_011539526.1:n.1838-1248T>C
XM_011541225.1:c.2179-1248T>C (PTPN22)	XP_011539527.1:n.2179-1248T>C
XM_011541225.2:c.2179-1248T>C (PTPN22)	XP_011539527.1:n.2179-1248T>C
XM_017001005.2:c.1937-1248T>C (PTPN22)	XP_016856494.1:n.1937-1248T>C
NM_015967.7:c.2282-1248T>C (PTPN22)	NP_057051.3:n.2282-1248T>C
NM_015967.8:c.2282-1248T>C (PTPN22) MANE Select	NP_057051.4:n.2282-1248T>C