Canonical Allele Identifier: CA347269034
Gene: TPRKB HGNC NCBI

Linked Data

ClinVar Variation Id: 444884
dbSNP Id: rs1553433412

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73730594A>G , CM000664.2:g.73730594A>G GRCh38
NC_000002.11:g.73957721A>G , CM000664.1:g.73957721A>G GRCh37
NC_000002.10:g.73811229A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272424.11:c.407T>C MANE Select ENSP00000272424.5:p.Leu136Pro
ENST00000272424.9:c.407T>C ENSP00000272424.5:p.Leu136Pro
ENST00000318190.7:c.524T>C ENSP00000325398.7:p.Leu175Pro
ENST00000409716.6:c.524T>C ENSP00000386936.2:p.Leu175Pro
ENST00000462166.1:n.412T>C
ENST00000463231.5:n.404T>C
ENST00000484969.5:n.486T>C
ENST00000485758.1:n.556T>C
ENST00000489476.5:n.300T>C
ENST00000497464.5:n.468T>C
NM_016058.2:c.407T>C NP_057142.1:p.Leu136Pro
XM_005264343.2:c.524T>C XP_005264400.1:p.Leu175Pro
XM_005264345.3:c.407T>C XP_005264402.1:p.Leu136Pro
XM_006712026.2:c.524T>C XP_006712089.1:p.Leu175Pro
XM_006712027.2:c.524T>C XP_006712090.1:p.Leu175Pro
XM_011532877.1:c.524T>C XP_011531179.1:p.Leu175Pro
XM_011532878.1:c.524T>C XP_011531180.1:p.Leu175Pro
XM_011532879.1:c.308T>C XP_011531181.1:p.Leu103Pro
XM_011532880.1:c.308T>C XP_011531182.1:p.Leu103Pro
NM_001330386.1:c.524T>C NP_001317315.1:p.Leu175Pro
NM_001330387.1:c.524T>C NP_001317316.1:p.Leu175Pro
NM_001330388.1:c.407T>C NP_001317317.1:p.Leu136Pro
NM_001330389.1:c.407T>C NP_001317318.1:p.Leu136Pro
NM_001330390.1:c.353T>C NP_001317319.1:p.Leu118Pro
NM_001330391.1:c.308T>C NP_001317320.1:p.Leu103Pro
NM_001330392.1:c.308T>C NP_001317321.1:p.Leu103Pro
NM_016058.3:c.407T>C NP_057142.1:p.Leu136Pro
NM_016058.5:c.407T>C MANE Select NP_057142.1:p.Leu136Pro
NM_001330386.2:c.524T>C NP_001317315.1:p.Leu175Pro
NM_001330387.2:c.524T>C NP_001317316.1:p.Leu175Pro
NM_001330388.2:c.407T>C NP_001317317.1:p.Leu136Pro
NM_001330389.2:c.407T>C NP_001317318.1:p.Leu136Pro
NM_001330390.2:c.353T>C NP_001317319.1:p.Leu118Pro
NM_001330391.2:c.308T>C NP_001317320.1:p.Leu103Pro
NM_001330392.2:c.308T>C NP_001317321.1:p.Leu103Pro