Canonical Allele Identifier: CA525380730

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1444874312
• gnomAD v2: 1-114382040-C-A
• gnomAD v3: 1-113839418-C-A
• gnomAD v4: 1-113839418-C-A
• MyVariant Identifiers: chr1:g.114382040C>A (hg19) ; chr1:g.113839418C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113839418C>A , CM000663.2:g.113839418C>A	GRCh38
NC_000001.10:g.114382040C>A , CM000663.1:g.114382040C>A	GRCh37
NC_000001.9:g.114183563C>A	NCBI36
NG_011432.1:g.37336G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.916-798G>T (PTPN22) MANE Select	ENSP00000352833.5:n.916-798G>T
ENST00000359785.9:c.916-798G>T (PTPN22)	ENSP00000352833.5:n.916-798G>T
ENST00000420377.6:c.916-798G>T (PTPN22)	ENSP00000388229.2:n.916-798G>T
ENST00000460620.5:c.468+16964G>T (PTPN22)	ENSP00000433141.1:n.468+16964G>T
ENST00000484147.5:n.957-798G>T (PTPN22)
ENST00000525799.1:c.535-798G>T (PTPN22)	ENSP00000432674.1:n.535-798G>T
ENST00000528414.5:c.751-798G>T (PTPN22)	ENSP00000435176.1:n.751-798G>T
ENST00000532224.5:c.*194-798G>T (PTPN22)	ENSP00000431249.1:n.*194-798G>T
ENST00000538253.5:c.844-798G>T (PTPN22)	ENSP00000439372.2:n.844-798G>T
NM_001193431.1:c.916-798G>T (PTPN22)	NP_001180360.1:n.916-798G>T
NM_001193431.2:c.916-798G>T (PTPN22)	NP_001180360.1:n.916-798G>T
NM_001308297.1:c.844-798G>T (PTPN22)	NP_001295226.1:n.844-798G>T
NM_012411.4:c.751-798G>T (PTPN22)	NP_036543.4:n.751-798G>T
NM_012411.5:c.751-798G>T (PTPN22)	NP_036543.4:n.751-798G>T
NM_015967.5:c.916-798G>T (PTPN22)	NP_057051.3:n.916-798G>T
NM_015967.6:c.916-798G>T (PTPN22)	NP_057051.3:n.916-798G>T
NR_125965.1:n.414+23946C>A (AP4B1-AS1)
XM_011541221.1:c.838-798G>T (PTPN22)	XP_011539523.1:n.838-798G>T
XM_011541222.1:c.916-798G>T (PTPN22)	XP_011539524.1:n.916-798G>T
XM_011541223.1:c.916-798G>T (PTPN22)	XP_011539525.1:n.916-798G>T
XM_011541224.1:c.472-798G>T (PTPN22)	XP_011539526.1:n.472-798G>T
XM_011541225.1:c.844-798G>T (PTPN22)	XP_011539527.1:n.844-798G>T
XM_011541223.2:c.916-798G>T (PTPN22)	XP_011539525.1:n.916-798G>T
XM_011541225.2:c.844-798G>T (PTPN22)	XP_011539527.1:n.844-798G>T
XM_017001004.1:c.916-798G>T (PTPN22)	XP_016856493.1:n.916-798G>T
XM_017001005.2:c.571-798G>T (PTPN22)	XP_016856494.1:n.571-798G>T
XM_017001006.1:c.916-775G>T (PTPN22)	XP_016856495.1:n.916-775G>T
NM_015967.7:c.916-798G>T (PTPN22)	NP_057051.3:n.916-798G>T
NM_015967.8:c.916-798G>T (PTPN22) MANE Select	NP_057051.4:n.916-798G>T