Canonical Allele Identifier: CA341703499

Gene: PTPN22 AP4B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.114376996G>C (hg19) ; chr1:g.113834374G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834374G>C , CM000663.2:g.113834374G>C	GRCh38
NC_000001.10:g.114376996G>C , CM000663.1:g.114376996G>C	GRCh37
NC_000001.9:g.114178519G>C	NCBI36
NG_011432.1:g.42380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.1960C>G (PTPN22) MANE Select	ENSP00000352833.5:p.Leu654Val
ENST00000359785.9:c.1960C>G (PTPN22)	ENSP00000352833.5:p.Leu654Val
ENST00000420377.6:c.1960C>G (PTPN22)	ENSP00000388229.2:p.Leu654Val
ENST00000460620.5:c.469-14720C>G (PTPN22)	ENSP00000433141.1:n.469-14720C>G
ENST00000484147.5:n.2001C>G (PTPN22)
ENST00000525799.1:c.1579C>G (PTPN22)	ENSP00000432674.1:p.Leu527Val
ENST00000528414.5:c.1795C>G (PTPN22)	ENSP00000435176.1:p.Leu599Val
ENST00000532224.5:c.*1238C>G (PTPN22)	ENSP00000431249.1:n.*1238C>G
ENST00000538253.5:c.1888C>G (PTPN22)	ENSP00000439372.2:p.Leu630Val
NM_001193431.1:c.1941+19C>G (PTPN22)	NP_001180360.1:n.1941+19C>G
NM_001193431.2:c.1941+19C>G (PTPN22)	NP_001180360.1:n.1941+19C>G
NM_001308297.1:c.1888C>G (PTPN22)	NP_001295226.1:p.Leu630Val
NM_012411.4:c.1795C>G (PTPN22)	NP_036543.4:p.Leu599Val
NM_012411.5:c.1795C>G (PTPN22)	NP_036543.4:p.Leu599Val
NM_015967.5:c.1960C>G (PTPN22)	NP_057051.3:p.Leu654Val
NM_015967.6:c.1960C>G (PTPN22)	NP_057051.3:p.Leu654Val
NR_125965.1:n.414+18902G>C (AP4B1-AS1)
XM_011541221.1:c.1882C>G (PTPN22)	XP_011539523.1:p.Leu628Val
XM_011541222.1:c.1960C>G (PTPN22)	XP_011539524.1:p.Leu654Val
XM_011541223.1:c.1960C>G (PTPN22)	XP_011539525.1:p.Leu654Val
XM_011541224.1:c.1516C>G (PTPN22)	XP_011539526.1:p.Leu506Val
XM_011541225.1:c.1888C>G (PTPN22)	XP_011539527.1:p.Leu630Val
XM_011541223.2:c.1960C>G (PTPN22)	XP_011539525.1:p.Leu654Val
XM_011541225.2:c.1888C>G (PTPN22)	XP_011539527.1:p.Leu630Val
XM_017001004.1:c.1960C>G (PTPN22)	XP_016856493.1:p.Leu654Val
XM_017001005.2:c.1615C>G (PTPN22)	XP_016856494.1:p.Leu539Val
NM_015967.7:c.1960C>G (PTPN22)	NP_057051.3:p.Leu654Val
NM_015967.8:c.1960C>G (PTPN22) MANE Select	NP_057051.4:p.Leu654Val