Canonical Allele Identifier: CA341704460

Gene: PTPN22 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114377601T>G (hg19) ; chr1:g.113834979T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834979T>G , CM000663.2:g.113834979T>G	GRCh38
NC_000001.10:g.114377601T>G , CM000663.1:g.114377601T>G	GRCh37
NC_000001.9:g.114179124T>G	NCBI36
NG_011432.1:g.41775A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.1825A>C (PTPN22) MANE Select	ENSP00000352833.5:p.Ile609Leu
ENST00000359785.9:c.1825A>C (PTPN22)	ENSP00000352833.5:p.Ile609Leu
ENST00000420377.6:c.1825A>C (PTPN22)	ENSP00000388229.2:p.Ile609Leu
ENST00000460620.5:c.469-15325A>C (PTPN22)	ENSP00000433141.1:n.469-15325A>C
ENST00000484147.5:n.1866A>C (PTPN22)
ENST00000525799.1:c.1444A>C (PTPN22)	ENSP00000432674.1:p.Ile482Leu
ENST00000528414.5:c.1660A>C (PTPN22)	ENSP00000435176.1:p.Ile554Leu
ENST00000532224.5:c.*1103A>C (PTPN22)	ENSP00000431249.1:n.*1103A>C
ENST00000538253.5:c.1753A>C (PTPN22)	ENSP00000439372.2:p.Ile585Leu
NM_001193431.1:c.1825A>C (PTPN22)	NP_001180360.1:p.Ile609Leu
NM_001193431.2:c.1825A>C (PTPN22)	NP_001180360.1:p.Ile609Leu
NM_001308297.1:c.1753A>C (PTPN22)	NP_001295226.1:p.Ile585Leu
NM_012411.4:c.1660A>C (PTPN22)	NP_036543.4:p.Ile554Leu
NM_012411.5:c.1660A>C (PTPN22)	NP_036543.4:p.Ile554Leu
NM_015967.5:c.1825A>C (PTPN22)	NP_057051.3:p.Ile609Leu
NM_015967.6:c.1825A>C (PTPN22)	NP_057051.3:p.Ile609Leu
NR_125965.1:n.414+19507T>G (AP4B1-AS1)
XM_011541221.1:c.1747A>C (PTPN22)	XP_011539523.1:p.Ile583Leu
XM_011541222.1:c.1825A>C (PTPN22)	XP_011539524.1:p.Ile609Leu
XM_011541223.1:c.1825A>C (PTPN22)	XP_011539525.1:p.Ile609Leu
XM_011541224.1:c.1381A>C (PTPN22)	XP_011539526.1:p.Ile461Leu
XM_011541225.1:c.1753A>C (PTPN22)	XP_011539527.1:p.Ile585Leu
XM_011541223.2:c.1825A>C (PTPN22)	XP_011539525.1:p.Ile609Leu
XM_011541225.2:c.1753A>C (PTPN22)	XP_011539527.1:p.Ile585Leu
XM_017001004.1:c.1825A>C (PTPN22)	XP_016856493.1:p.Ile609Leu
XM_017001005.2:c.1480A>C (PTPN22)	XP_016856494.1:p.Ile494Leu
NM_015967.7:c.1825A>C (PTPN22)	NP_057051.3:p.Ile609Leu
NM_015967.8:c.1825A>C (PTPN22) MANE Select	NP_057051.4:p.Ile609Leu