Canonical Allele Identifier: CA472922673

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1900797
• ClinVar RCV Id: RCV002571141
• MyVariant Identifiers: chr11:g.6637929A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616698A>G , CM000673.2:g.6616698A>G	GRCh38
NC_000011.9:g.6637929A>G , CM000673.1:g.6637929A>G	GRCh37
NC_000011.8:g.6594505A>G	NCBI36
NG_008653.1:g.7764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.735T>C	ENSP00000507321.1:p.Ala245=
ENST00000299427.12:c.849T>C MANE Select	ENSP00000299427.6:p.Ala283=
ENST00000436873.7:c.312+603T>C
ENST00000524788.2:n.2008T>C
ENST00000524903.2:n.2124T>C
ENST00000528807.2:n.505T>C
ENST00000530040.2:n.480-195T>C
ENST00000533371.6:c.120T>C	ENSP00000437066.1:p.Ala40=
ENST00000642892.1:c.120T>C	ENSP00000494165.1:p.Ala40=
ENST00000643439.1:c.*589T>C	ENSP00000495849.1:n.*589T>C
ENST00000643479.1:n.878T>C
ENST00000643516.1:c.396-195T>C
ENST00000644151.1:n.2288T>C
ENST00000644218.1:c.849T>C	ENSP00000493574.1:p.Ala283=
ENST00000644683.1:c.*302T>C	ENSP00000494085.1:n.*302T>C
ENST00000644810.1:c.570T>C	ENSP00000495895.1:p.Ala190=
ENST00000644831.1:n.1025T>C
ENST00000644933.1:c.120T>C	ENSP00000496133.1:p.Ala40=
ENST00000645020.1:n.2139T>C
ENST00000645285.1:c.120T>C	ENSP00000495058.1:p.Ala40=
ENST00000645331.1:n.1215T>C
ENST00000645620.1:c.120T>C	ENSP00000493657.1:p.Ala40=
ENST00000646777.1:n.1025T>C
ENST00000647016.1:n.1329T>C
ENST00000647152.1:c.120T>C	ENSP00000495893.1:p.Ala40=
ENST00000647209.1:c.*718T>C	ENSP00000495558.1:n.*718T>C
ENST00000647346.1:n.1869T>C
ENST00000299427.10:c.849T>C	ENSP00000299427.6:p.Ala283=
ENST00000436873.6:c.451-195T>C	ENSP00000398136.2:n.451-195T>C
ENST00000524788.1:n.549T>C
ENST00000528807.1:n.399T>C
ENST00000533371.5:c.120T>C	ENSP00000437066.1:p.Ala40=
ENST00000611494.4:c.849T>C	ENSP00000484546.1:p.Ala283=
NM_000391.3:c.849T>C	NP_000382.3:p.Ala283=
NM_000391.4:c.849T>C MANE Select	NP_000382.3:p.Ala283=