Canonical Allele Identifier: CA379475541

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617091-T-G
• MyVariant Identifiers: chr11:g.6638322T>G (hg19) ; chr11:g.6617091T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617091T>G , CM000673.2:g.6617091T>G	GRCh38
NC_000011.9:g.6638322T>G , CM000673.1:g.6638322T>G	GRCh37
NC_000011.8:g.6594898T>G	NCBI36
NG_008653.1:g.7371A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.457A>C	ENSP00000507321.1:p.Thr153Pro
ENST00000299427.12:c.571A>C MANE Select	ENSP00000299427.6:p.Thr191Pro
ENST00000428886.7:n.806A>C
ENST00000436873.7:c.312+210A>C
ENST00000524788.2:n.1730A>C
ENST00000524903.2:n.1846A>C
ENST00000528807.2:n.227A>C
ENST00000530040.2:n.479+268A>C
ENST00000533371.6:c.-159A>C	ENSP00000437066.1:n.-159A>C
ENST00000534644.6:n.519A>C
ENST00000642892.1:c.-159A>C	ENSP00000494165.1:n.-159A>C
ENST00000643439.1:c.*311A>C	ENSP00000495849.1:n.*311A>C
ENST00000643479.1:n.600A>C
ENST00000643516.1:c.395+210A>C
ENST00000644151.1:n.2010A>C
ENST00000644218.1:c.571A>C	ENSP00000493574.1:p.Thr191Pro
ENST00000644683.1:c.*24A>C	ENSP00000494085.1:n.*24A>C
ENST00000644810.1:c.292A>C	ENSP00000495895.1:p.Thr98Pro
ENST00000644831.1:n.747A>C
ENST00000644933.1:c.-159A>C	ENSP00000496133.1:n.-159A>C
ENST00000645020.1:n.1746A>C
ENST00000645285.1:c.-159A>C	ENSP00000495058.1:n.-159A>C
ENST00000645331.1:n.937A>C
ENST00000645620.1:c.-159A>C	ENSP00000493657.1:n.-159A>C
ENST00000646777.1:n.747A>C
ENST00000647016.1:n.1051A>C
ENST00000647152.1:c.-159A>C	ENSP00000495893.1:n.-159A>C
ENST00000647209.1:c.*440A>C	ENSP00000495558.1:n.*440A>C
ENST00000647346.1:n.1591A>C
ENST00000299427.10:c.571A>C	ENSP00000299427.6:p.Thr191Pro
ENST00000428886.6:n.740A>C
ENST00000436873.6:c.450+268A>C	ENSP00000398136.2:n.450+268A>C
ENST00000524788.1:n.271A>C
ENST00000528571.5:c.*311A>C	ENSP00000434647.1:n.*311A>C
ENST00000528807.1:n.121A>C
ENST00000533371.5:c.-159A>C	ENSP00000437066.1:n.-159A>C
ENST00000534644.5:n.556A>C
ENST00000611494.4:c.571A>C	ENSP00000484546.1:p.Thr191Pro
NM_000391.3:c.571A>C	NP_000382.3:p.Thr191Pro
NM_000391.4:c.571A>C MANE Select	NP_000382.3:p.Thr191Pro