Canonical Allele Identifier: CA28977709

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1310182
• gnomAD v3: 1-113830881-A-C
• gnomAD v4: 1-113830881-A-C
• MyVariant Identifiers: chr1:g.113830881A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113830881A>C , CM000663.2:g.113830881A>C	GRCh38
NC_000001.10:g.114373503A>C , CM000663.1:g.114373503A>C	GRCh37
NC_000001.9:g.114175026A>C	NCBI36
NG_011432.1:g.45873T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.2054-852T>G (PTPN22) MANE Select	ENSP00000352833.5:n.2054-852T>G
ENST00000359785.9:c.2054-852T>G (PTPN22)	ENSP00000352833.5:n.2054-852T>G
ENST00000420377.6:c.2054-852T>G (PTPN22)	ENSP00000388229.2:n.2054-852T>G
ENST00000460620.5:c.469-11227T>G (PTPN22)	ENSP00000433141.1:n.469-11227T>G
ENST00000525799.1:c.1673-852T>G (PTPN22)	ENSP00000432674.1:n.1673-852T>G
ENST00000528414.5:c.1889-852T>G (PTPN22)	ENSP00000435176.1:n.1889-852T>G
ENST00000532224.5:c.*1332-852T>G (PTPN22)	ENSP00000431249.1:n.*1332-852T>G
ENST00000538253.5:c.1982-852T>G (PTPN22)	ENSP00000439372.2:n.1982-852T>G
NM_001193431.1:c.1970-852T>G (PTPN22)	NP_001180360.1:n.1970-852T>G
NM_001193431.2:c.1970-852T>G (PTPN22)	NP_001180360.1:n.1970-852T>G
NM_001308297.1:c.1982-852T>G (PTPN22)	NP_001295226.1:n.1982-852T>G
NM_012411.4:c.1889-852T>G (PTPN22)	NP_036543.4:n.1889-852T>G
NM_012411.5:c.1889-852T>G (PTPN22)	NP_036543.4:n.1889-852T>G
NM_015967.5:c.2054-852T>G (PTPN22)	NP_057051.3:n.2054-852T>G
NM_015967.6:c.2054-852T>G (PTPN22)	NP_057051.3:n.2054-852T>G
NR_125965.1:n.414+15409A>C (AP4B1-AS1)
XM_011541221.1:c.1976-852T>G (PTPN22)	XP_011539523.1:n.1976-852T>G
XM_011541222.1:c.2054-852T>G (PTPN22)	XP_011539524.1:n.2054-852T>G
XM_011541223.1:c.*704T>G (PTPN22)	XP_011539525.1:n.*704T>G
XM_011541224.1:c.1610-852T>G (PTPN22)	XP_011539526.1:n.1610-852T>G
XM_011541225.1:c.1982-852T>G (PTPN22)	XP_011539527.1:n.1982-852T>G
XM_011541223.2:c.*704T>G (PTPN22)	XP_011539525.1:n.*704T>G
XM_011541225.2:c.1982-852T>G (PTPN22)	XP_011539527.1:n.1982-852T>G
XM_017001004.1:c.2054-852T>G (PTPN22)	XP_016856493.1:n.2054-852T>G
XM_017001005.2:c.1709-852T>G (PTPN22)	XP_016856494.1:n.1709-852T>G
NM_015967.7:c.2054-852T>G (PTPN22)	NP_057051.3:n.2054-852T>G
NM_015967.8:c.2054-852T>G (PTPN22) MANE Select	NP_057051.4:n.2054-852T>G