Canonical Allele Identifier: CA249375

Gene: PTPN22 AP4B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113829592C>G , CM000663.2:g.113829592C>G	GRCh38
NC_000001.10:g.114372214C>G , CM000663.1:g.114372214C>G	GRCh37
NC_000001.9:g.114173737C>G	NCBI36
NG_011432.1:g.47162G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015967.8:c.2250G>C (PTPN22) MANE Select	NP_057051.4:p.Lys750Asn
ENST00000359785.10:c.2250G>C (PTPN22) MANE Select	ENSP00000352833.5:p.Lys750Asn
NM_001193431.1:c.2166G>C (PTPN22)	NP_001180360.1:p.Lys722Asn
NM_001193431.2:c.2166G>C (PTPN22)	NP_001180360.1:p.Lys722Asn
NM_001308297.1:c.2178G>C (PTPN22)	NP_001295226.1:p.Lys726Asn
NM_012411.4:c.2085G>C (PTPN22)	NP_036543.4:p.Lys695Asn
NM_012411.5:c.2085G>C (PTPN22)	NP_036543.4:p.Lys695Asn
NM_015967.5:c.2250G>C (PTPN22)	NP_057051.3:p.Lys750Asn
NM_015967.6:c.2250G>C (PTPN22)	NP_057051.3:p.Lys750Asn
NM_015967.7:c.2250G>C (PTPN22)	NP_057051.3:p.Lys750Asn
NR_125965.1:n.414+14120C>G (AP4B1-AS1)
ENST00000359785.9:c.2250G>C (PTPN22)	ENSP00000352833.5:p.Lys750Asn
ENST00000420377.6:c.2250G>C (PTPN22)	ENSP00000388229.2:p.Lys750Asn
ENST00000460620.5:c.469-9938G>C (PTPN22)	ENSP00000433141.1:n.469-9938G>C
ENST00000525799.1:c.1869G>C (PTPN22)	ENSP00000432674.1:p.Lys623Asn
ENST00000528414.5:c.2085G>C (PTPN22)	ENSP00000435176.1:p.Lys695Asn
ENST00000532224.5:c.*1528G>C (PTPN22)	ENSP00000431249.1:n.*1528G>C
ENST00000538253.5:c.2178G>C (PTPN22)	ENSP00000439372.2:p.Lys726Asn
XM_011541221.1:c.2172G>C (PTPN22)	XP_011539523.1:p.Lys724Asn
XM_011541222.1:c.2250G>C (PTPN22)	XP_011539524.1:p.Lys750Asn
XM_011541224.1:c.1806G>C (PTPN22)	XP_011539526.1:p.Lys602Asn
XM_011541225.1:c.2178G>C (PTPN22)	XP_011539527.1:p.Lys726Asn
XM_011541225.2:c.2178G>C (PTPN22)	XP_011539527.1:p.Lys726Asn
XM_017001004.1:c.2250G>C (PTPN22)	XP_016856493.1:p.Lys750Asn
XM_017001005.2:c.1905G>C (PTPN22)	XP_016856494.1:p.Lys635Asn