Canonical Allele Identifier: CA390552616
Gene: PTPN21 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.88472308A>T , CM000676.2:g.88472308A>T GRCh38
NC_000014.8:g.88938652A>T , CM000676.1:g.88938652A>T GRCh37
NC_000014.7:g.88008405A>T NCBI36
NG_046949.1:g.87472T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000556564.6:c.2807T>A MANE Select ENSP00000452414.1:p.Val936Glu
ENST00000328736.7:c.2807T>A ENSP00000330276.3:p.Val936Glu
ENST00000536337.5:c.*2744T>A ENSP00000443951.1:n.*2744T>A
ENST00000554270.5:n.2920T>A
ENST00000556564.5:c.2807T>A ENSP00000452414.1:p.Val936Glu
ENST00000557249.1:n.426T>A
NM_007039.3:c.2807T>A NP_008970.2:p.Val936Glu
XM_005267287.1:c.2807T>A XP_005267344.1:p.Val936Glu
XM_006720011.2:c.2438T>A XP_006720074.1:p.Val813Glu
XM_011536367.1:c.2807T>A XP_011534669.1:p.Val936Glu
XM_011536368.1:c.2438T>A XP_011534670.1:p.Val813Glu
XM_011536369.1:c.2195T>A XP_011534671.1:p.Val732Glu
XM_005267287.3:c.2807T>A XP_005267344.1:p.Val936Glu
XM_006720011.3:c.2438T>A XP_006720074.1:p.Val813Glu
XM_011536367.3:c.2807T>A XP_011534669.1:p.Val936Glu
XM_011536368.2:c.2438T>A XP_011534670.1:p.Val813Glu
XM_011536369.2:c.2195T>A XP_011534671.1:p.Val732Glu
XM_017020938.2:c.2438T>A XP_016876427.1:p.Val813Glu
XM_017020939.1:c.2195T>A XP_016876428.1:p.Val732Glu
NM_007039.4:c.2807T>A MANE Select NP_008970.2:p.Val936Glu