Canonical Allele Identifier: CA341704357

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1210175248
• gnomAD v2: 1-114377580-G-T
• gnomAD v4: 1-113834958-G-T
• MyVariant Identifiers: chr1:g.114377580G>T (hg19) ; chr1:g.113834958G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834958G>T , CM000663.2:g.113834958G>T	GRCh38
NC_000001.10:g.114377580G>T , CM000663.1:g.114377580G>T	GRCh37
NC_000001.9:g.114179103G>T	NCBI36
NG_011432.1:g.41796C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.1846C>A (PTPN22) MANE Select	ENSP00000352833.5:p.Pro616Thr
ENST00000359785.9:c.1846C>A (PTPN22)	ENSP00000352833.5:p.Pro616Thr
ENST00000420377.6:c.1846C>A (PTPN22)	ENSP00000388229.2:p.Pro616Thr
ENST00000460620.5:c.469-15304C>A (PTPN22)	ENSP00000433141.1:n.469-15304C>A
ENST00000484147.5:n.1887C>A (PTPN22)
ENST00000525799.1:c.1465C>A (PTPN22)	ENSP00000432674.1:p.Pro489Thr
ENST00000528414.5:c.1681C>A (PTPN22)	ENSP00000435176.1:p.Pro561Thr
ENST00000532224.5:c.*1124C>A (PTPN22)	ENSP00000431249.1:n.*1124C>A
ENST00000538253.5:c.1774C>A (PTPN22)	ENSP00000439372.2:p.Pro592Thr
NM_001193431.1:c.1846C>A (PTPN22)	NP_001180360.1:p.Pro616Thr
NM_001193431.2:c.1846C>A (PTPN22)	NP_001180360.1:p.Pro616Thr
NM_001308297.1:c.1774C>A (PTPN22)	NP_001295226.1:p.Pro592Thr
NM_012411.4:c.1681C>A (PTPN22)	NP_036543.4:p.Pro561Thr
NM_012411.5:c.1681C>A (PTPN22)	NP_036543.4:p.Pro561Thr
NM_015967.5:c.1846C>A (PTPN22)	NP_057051.3:p.Pro616Thr
NM_015967.6:c.1846C>A (PTPN22)	NP_057051.3:p.Pro616Thr
NR_125965.1:n.414+19486G>T (AP4B1-AS1)
XM_011541221.1:c.1768C>A (PTPN22)	XP_011539523.1:p.Pro590Thr
XM_011541222.1:c.1846C>A (PTPN22)	XP_011539524.1:p.Pro616Thr
XM_011541223.1:c.1846C>A (PTPN22)	XP_011539525.1:p.Pro616Thr
XM_011541224.1:c.1402C>A (PTPN22)	XP_011539526.1:p.Pro468Thr
XM_011541225.1:c.1774C>A (PTPN22)	XP_011539527.1:p.Pro592Thr
XM_011541223.2:c.1846C>A (PTPN22)	XP_011539525.1:p.Pro616Thr
XM_011541225.2:c.1774C>A (PTPN22)	XP_011539527.1:p.Pro592Thr
XM_017001004.1:c.1846C>A (PTPN22)	XP_016856493.1:p.Pro616Thr
XM_017001005.2:c.1501C>A (PTPN22)	XP_016856494.1:p.Pro501Thr
NM_015967.7:c.1846C>A (PTPN22)	NP_057051.3:p.Pro616Thr
NM_015967.8:c.1846C>A (PTPN22) MANE Select	NP_057051.4:p.Pro616Thr