Canonical Allele Identifier: CA379475455

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1956608
• ClinVar RCV Id: RCV002700969
• gnomAD v4: 11-6617048-A-G
• MyVariant Identifiers: chr11:g.6638279A>G (hg19) ; chr11:g.6617048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617048A>G , CM000673.2:g.6617048A>G	GRCh38
NC_000011.9:g.6638279A>G , CM000673.1:g.6638279A>G	GRCh37
NC_000011.8:g.6594855A>G	NCBI36
NG_008653.1:g.7414T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.500T>C	ENSP00000507321.1:p.Ile167Thr
ENST00000299427.12:c.614T>C MANE Select	ENSP00000299427.6:p.Ile205Thr
ENST00000436873.7:c.312+253T>C
ENST00000524788.2:n.1773T>C
ENST00000524903.2:n.1889T>C
ENST00000528807.2:n.270T>C
ENST00000530040.2:n.479+311T>C
ENST00000533371.6:c.-116T>C	ENSP00000437066.1:n.-116T>C
ENST00000534644.6:n.562T>C
ENST00000642892.1:c.-116T>C	ENSP00000494165.1:n.-116T>C
ENST00000643439.1:c.*354T>C	ENSP00000495849.1:n.*354T>C
ENST00000643479.1:n.643T>C
ENST00000643516.1:c.395+253T>C
ENST00000644151.1:n.2053T>C
ENST00000644218.1:c.614T>C	ENSP00000493574.1:p.Ile205Thr
ENST00000644683.1:c.*67T>C	ENSP00000494085.1:n.*67T>C
ENST00000644810.1:c.335T>C	ENSP00000495895.1:p.Ile112Thr
ENST00000644831.1:n.790T>C
ENST00000644933.1:c.-116T>C	ENSP00000496133.1:n.-116T>C
ENST00000645020.1:n.1789T>C
ENST00000645285.1:c.-116T>C	ENSP00000495058.1:n.-116T>C
ENST00000645331.1:n.980T>C
ENST00000645620.1:c.-116T>C	ENSP00000493657.1:n.-116T>C
ENST00000646777.1:n.790T>C
ENST00000647016.1:n.1094T>C
ENST00000647152.1:c.-116T>C	ENSP00000495893.1:n.-116T>C
ENST00000647209.1:c.*483T>C	ENSP00000495558.1:n.*483T>C
ENST00000647346.1:n.1634T>C
ENST00000299427.10:c.614T>C	ENSP00000299427.6:p.Ile205Thr
ENST00000428886.6:n.783T>C
ENST00000436873.6:c.450+311T>C	ENSP00000398136.2:n.450+311T>C
ENST00000524788.1:n.314T>C
ENST00000528571.5:c.*354T>C	ENSP00000434647.1:n.*354T>C
ENST00000528807.1:n.164T>C
ENST00000533371.5:c.-116T>C	ENSP00000437066.1:n.-116T>C
ENST00000534644.5:n.599T>C
ENST00000611494.4:c.614T>C	ENSP00000484546.1:p.Ile205Thr
NM_000391.3:c.614T>C	NP_000382.3:p.Ile205Thr
NM_000391.4:c.614T>C MANE Select	NP_000382.3:p.Ile205Thr