Canonical Allele Identifier: CA341704352

Gene: PTPN22 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113834957-G-A
• MyVariant Identifiers: chr1:g.114377579G>A (hg19) ; chr1:g.113834957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834957G>A , CM000663.2:g.113834957G>A	GRCh38
NC_000001.10:g.114377579G>A , CM000663.1:g.114377579G>A	GRCh37
NC_000001.9:g.114179102G>A	NCBI36
NG_011432.1:g.41797C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.1847C>T (PTPN22) MANE Select	ENSP00000352833.5:p.Pro616Leu
ENST00000359785.9:c.1847C>T (PTPN22)	ENSP00000352833.5:p.Pro616Leu
ENST00000420377.6:c.1847C>T (PTPN22)	ENSP00000388229.2:p.Pro616Leu
ENST00000460620.5:c.469-15303C>T (PTPN22)	ENSP00000433141.1:n.469-15303C>T
ENST00000484147.5:n.1888C>T (PTPN22)
ENST00000525799.1:c.1466C>T (PTPN22)	ENSP00000432674.1:p.Pro489Leu
ENST00000528414.5:c.1682C>T (PTPN22)	ENSP00000435176.1:p.Pro561Leu
ENST00000532224.5:c.*1125C>T (PTPN22)	ENSP00000431249.1:n.*1125C>T
ENST00000538253.5:c.1775C>T (PTPN22)	ENSP00000439372.2:p.Pro592Leu
NM_001193431.1:c.1847C>T (PTPN22)	NP_001180360.1:p.Pro616Leu
NM_001193431.2:c.1847C>T (PTPN22)	NP_001180360.1:p.Pro616Leu
NM_001308297.1:c.1775C>T (PTPN22)	NP_001295226.1:p.Pro592Leu
NM_012411.4:c.1682C>T (PTPN22)	NP_036543.4:p.Pro561Leu
NM_012411.5:c.1682C>T (PTPN22)	NP_036543.4:p.Pro561Leu
NM_015967.5:c.1847C>T (PTPN22)	NP_057051.3:p.Pro616Leu
NM_015967.6:c.1847C>T (PTPN22)	NP_057051.3:p.Pro616Leu
NR_125965.1:n.414+19485G>A (AP4B1-AS1)
XM_011541221.1:c.1769C>T (PTPN22)	XP_011539523.1:p.Pro590Leu
XM_011541222.1:c.1847C>T (PTPN22)	XP_011539524.1:p.Pro616Leu
XM_011541223.1:c.1847C>T (PTPN22)	XP_011539525.1:p.Pro616Leu
XM_011541224.1:c.1403C>T (PTPN22)	XP_011539526.1:p.Pro468Leu
XM_011541225.1:c.1775C>T (PTPN22)	XP_011539527.1:p.Pro592Leu
XM_011541223.2:c.1847C>T (PTPN22)	XP_011539525.1:p.Pro616Leu
XM_011541225.2:c.1775C>T (PTPN22)	XP_011539527.1:p.Pro592Leu
XM_017001004.1:c.1847C>T (PTPN22)	XP_016856493.1:p.Pro616Leu
XM_017001005.2:c.1502C>T (PTPN22)	XP_016856494.1:p.Pro501Leu
NM_015967.7:c.1847C>T (PTPN22)	NP_057051.3:p.Pro616Leu
NM_015967.8:c.1847C>T (PTPN22) MANE Select	NP_057051.4:p.Pro616Leu