Canonical Allele Identifier: CA347268770

Gene: TPRKB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73730026A>T , CM000664.2:g.73730026A>T	GRCh38
NC_000002.11:g.73957153A>T , CM000664.1:g.73957153A>T	GRCh37
NC_000002.10:g.73810661A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016058.5:c.445T>A MANE Select	NP_057142.1:p.Tyr149Asn
ENST00000272424.11:c.445T>A MANE Select	ENSP00000272424.5:p.Tyr149Asn
NM_001330386.1:c.562T>A	NP_001317315.1:p.Tyr188Asn
NM_001330386.2:c.562T>A	NP_001317315.1:p.Tyr188Asn
NM_001330387.1:c.562T>A	NP_001317316.1:p.Tyr188Asn
NM_001330387.2:c.562T>A	NP_001317316.1:p.Tyr188Asn
NM_001330388.1:c.445T>A	NP_001317317.1:p.Tyr149Asn
NM_001330388.2:c.445T>A	NP_001317317.1:p.Tyr149Asn
NM_001330389.1:c.445T>A	NP_001317318.1:p.Tyr149Asn
NM_001330389.2:c.445T>A	NP_001317318.1:p.Tyr149Asn
NM_001330390.1:c.391T>A	NP_001317319.1:p.Tyr131Asn
NM_001330390.2:c.391T>A	NP_001317319.1:p.Tyr131Asn
NM_001330391.1:c.346T>A	NP_001317320.1:p.Tyr116Asn
NM_001330391.2:c.346T>A	NP_001317320.1:p.Tyr116Asn
NM_001330392.1:c.346T>A	NP_001317321.1:p.Tyr116Asn
NM_001330392.2:c.346T>A	NP_001317321.1:p.Tyr116Asn
NM_016058.2:c.445T>A	NP_057142.1:p.Tyr149Asn
NM_016058.3:c.445T>A	NP_057142.1:p.Tyr149Asn
ENST00000272424.9:c.445T>A	ENSP00000272424.5:p.Tyr149Asn
ENST00000318190.7:c.562T>A	ENSP00000325398.7:p.Tyr188Asn
ENST00000409716.6:c.562T>A	ENSP00000386936.2:p.Tyr188Asn
ENST00000463231.5:n.438+534T>A
ENST00000484969.5:n.520+534T>A
ENST00000485758.1:n.594T>A
ENST00000489476.5:n.334+534T>A
XM_005264343.2:c.562T>A	XP_005264400.1:p.Tyr188Asn
XM_005264345.3:c.445T>A	XP_005264402.1:p.Tyr149Asn
XM_006712026.2:c.562T>A	XP_006712089.1:p.Tyr188Asn
XM_006712027.2:c.562T>A	XP_006712090.1:p.Tyr188Asn
XM_011532877.1:c.562T>A	XP_011531179.1:p.Tyr188Asn
XM_011532878.1:c.562T>A	XP_011531180.1:p.Tyr188Asn
XM_011532879.1:c.346T>A	XP_011531181.1:p.Tyr116Asn
XM_011532880.1:c.346T>A	XP_011531182.1:p.Tyr116Asn