Canonical Allele Identifier: CA419561328

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1303398804
• gnomAD v2: 1-114377554-T-A
• MyVariant Identifiers: chr1:g.114377554T>A (hg19) ; chr1:g.113834932T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834932T>A , CM000663.2:g.113834932T>A	GRCh38
NC_000001.10:g.114377554T>A , CM000663.1:g.114377554T>A	GRCh37
NC_000001.9:g.114179077T>A	NCBI36
NG_011432.1:g.41822A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.1872A>T (PTPN22) MANE Select	ENSP00000352833.5:p.Ser624=
ENST00000359785.9:c.1872A>T (PTPN22)	ENSP00000352833.5:p.Ser624=
ENST00000420377.6:c.1872A>T (PTPN22)	ENSP00000388229.2:p.Ser624=
ENST00000460620.5:c.469-15278A>T (PTPN22)	ENSP00000433141.1:n.469-15278A>T
ENST00000484147.5:n.1913A>T (PTPN22)
ENST00000525799.1:c.1491A>T (PTPN22)	ENSP00000432674.1:p.Ser497=
ENST00000528414.5:c.1707A>T (PTPN22)	ENSP00000435176.1:p.Ser569=
ENST00000532224.5:c.*1150A>T (PTPN22)	ENSP00000431249.1:n.*1150A>T
ENST00000538253.5:c.1800A>T (PTPN22)	ENSP00000439372.2:p.Ser600=
NM_001193431.1:c.1872A>T (PTPN22)	NP_001180360.1:p.Ser624=
NM_001193431.2:c.1872A>T (PTPN22)	NP_001180360.1:p.Ser624=
NM_001308297.1:c.1800A>T (PTPN22)	NP_001295226.1:p.Ser600=
NM_012411.4:c.1707A>T (PTPN22)	NP_036543.4:p.Ser569=
NM_012411.5:c.1707A>T (PTPN22)	NP_036543.4:p.Ser569=
NM_015967.5:c.1872A>T (PTPN22)	NP_057051.3:p.Ser624=
NM_015967.6:c.1872A>T (PTPN22)	NP_057051.3:p.Ser624=
NR_125965.1:n.414+19460T>A (AP4B1-AS1)
XM_011541221.1:c.1794A>T (PTPN22)	XP_011539523.1:p.Ser598=
XM_011541222.1:c.1872A>T (PTPN22)	XP_011539524.1:p.Ser624=
XM_011541223.1:c.1872A>T (PTPN22)	XP_011539525.1:p.Ser624=
XM_011541224.1:c.1428A>T (PTPN22)	XP_011539526.1:p.Ser476=
XM_011541225.1:c.1800A>T (PTPN22)	XP_011539527.1:p.Ser600=
XM_011541223.2:c.1872A>T (PTPN22)	XP_011539525.1:p.Ser624=
XM_011541225.2:c.1800A>T (PTPN22)	XP_011539527.1:p.Ser600=
XM_017001004.1:c.1872A>T (PTPN22)	XP_016856493.1:p.Ser624=
XM_017001005.2:c.1527A>T (PTPN22)	XP_016856494.1:p.Ser509=
NM_015967.7:c.1872A>T (PTPN22)	NP_057051.3:p.Ser624=
NM_015967.8:c.1872A>T (PTPN22) MANE Select	NP_057051.4:p.Ser624=