Canonical Allele Identifier: CA1014947

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs554195846
• ExAC: 1:114377611 A / G
• gnomAD v2: 1-114377611-A-G
• gnomAD v3: 1-113834989-A-G
• gnomAD v4: 1-113834989-A-G
• MyVariant Identifiers: chr1:g.114377611A>G (hg19) ; chr1:g.113834989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834989A>G , CM000663.2:g.113834989A>G	GRCh38
NC_000001.10:g.114377611A>G , CM000663.1:g.114377611A>G	GRCh37
NC_000001.9:g.114179134A>G	NCBI36
NG_011432.1:g.41765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.1815T>C (PTPN22) MANE Select	ENSP00000352833.5:p.Thr605=
ENST00000359785.9:c.1815T>C (PTPN22)	ENSP00000352833.5:p.Thr605=
ENST00000420377.6:c.1815T>C (PTPN22)	ENSP00000388229.2:p.Thr605=
ENST00000460620.5:c.469-15335T>C (PTPN22)	ENSP00000433141.1:n.469-15335T>C
ENST00000484147.5:n.1856T>C (PTPN22)
ENST00000525799.1:c.1434T>C (PTPN22)	ENSP00000432674.1:p.Thr478=
ENST00000528414.5:c.1650T>C (PTPN22)	ENSP00000435176.1:p.Thr550=
ENST00000532224.5:c.*1093T>C (PTPN22)	ENSP00000431249.1:n.*1093T>C
ENST00000538253.5:c.1743T>C (PTPN22)	ENSP00000439372.2:p.Thr581=
NM_001193431.1:c.1815T>C (PTPN22)	NP_001180360.1:p.Thr605=
NM_001193431.2:c.1815T>C (PTPN22)	NP_001180360.1:p.Thr605=
NM_001308297.1:c.1743T>C (PTPN22)	NP_001295226.1:p.Thr581=
NM_012411.4:c.1650T>C (PTPN22)	NP_036543.4:p.Thr550=
NM_012411.5:c.1650T>C (PTPN22)	NP_036543.4:p.Thr550=
NM_015967.5:c.1815T>C (PTPN22)	NP_057051.3:p.Thr605=
NM_015967.6:c.1815T>C (PTPN22)	NP_057051.3:p.Thr605=
NR_125965.1:n.414+19517A>G (AP4B1-AS1)
XM_011541221.1:c.1737T>C (PTPN22)	XP_011539523.1:p.Thr579=
XM_011541222.1:c.1815T>C (PTPN22)	XP_011539524.1:p.Thr605=
XM_011541223.1:c.1815T>C (PTPN22)	XP_011539525.1:p.Thr605=
XM_011541224.1:c.1371T>C (PTPN22)	XP_011539526.1:p.Thr457=
XM_011541225.1:c.1743T>C (PTPN22)	XP_011539527.1:p.Thr581=
XM_011541223.2:c.1815T>C (PTPN22)	XP_011539525.1:p.Thr605=
XM_011541225.2:c.1743T>C (PTPN22)	XP_011539527.1:p.Thr581=
XM_017001004.1:c.1815T>C (PTPN22)	XP_016856493.1:p.Thr605=
XM_017001005.2:c.1470T>C (PTPN22)	XP_016856494.1:p.Thr490=
NM_015967.7:c.1815T>C (PTPN22)	NP_057051.3:p.Thr605=
NM_015967.8:c.1815T>C (PTPN22) MANE Select	NP_057051.4:p.Thr605=