Canonical Allele Identifier: CA174537

Gene: PTPN21

Linked Data

• ClinVar Variation Id: 161654
• ClinVar RCV Id: RCV000149190
• dbSNP Id: rs193920899
• COSMIC: COSM1180039
• MyVariant Identifiers: chr14:g.89016668T>G (hg19) ; chr14:g.88550324T>G (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88550324T>G , CM000676.2:g.88550324T>G	GRCh38
NC_000014.8:g.89016668T>G , CM000676.1:g.89016668T>G	GRCh37
NC_000014.7:g.88086421T>G	NCBI36
NG_046949.1:g.9456A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000556564.6:c.94A>C MANE Select	ENSP00000452414.1:p.Asn32His
ENST00000328736.7:c.94A>C	ENSP00000330276.3:p.Asn32His
ENST00000536337.5:c.94A>C	ENSP00000443951.1:p.Asn32His
ENST00000554178.1:n.296A>C
ENST00000554270.5:n.207A>C
ENST00000554628.5:n.474A>C
ENST00000555243.1:c.94A>C	ENSP00000451401.1:p.Asn32His
ENST00000556564.5:c.94A>C	ENSP00000452414.1:p.Asn32His
NM_007039.3:c.94A>C	NP_008970.2:p.Asn32His
XM_005267287.1:c.94A>C	XP_005267344.1:p.Asn32His
XM_006720011.2:c.-178A>C	XP_006720074.1:n.-178A>C
XM_011536367.1:c.94A>C	XP_011534669.1:p.Asn32His
XM_011536369.1:c.-642A>C	XP_011534671.1:n.-642A>C
XM_005267287.3:c.94A>C	XP_005267344.1:p.Asn32His
XM_006720011.3:c.-178A>C	XP_006720074.1:n.-178A>C
XM_011536367.3:c.94A>C	XP_011534669.1:p.Asn32His
XM_011536369.2:c.-642A>C	XP_011534671.1:n.-642A>C
XM_017020938.2:c.-178A>C	XP_016876427.1:n.-178A>C
NM_007039.4:c.94A>C MANE Select	NP_008970.2:p.Asn32His