Canonical Allele Identifier: CA379472802

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636542A>G (hg19) ; chr11:g.6615311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615311A>G , CM000673.2:g.6615311A>G	GRCh38
NC_000011.9:g.6636542A>G , CM000673.1:g.6636542A>G	GRCh37
NC_000011.8:g.6593118A>G	NCBI36
NG_008653.1:g.9151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1171T>C	ENSP00000507321.1:p.Phe391Leu
ENST00000299427.12:c.1285T>C MANE Select	ENSP00000299427.6:p.Phe429Leu
ENST00000524611.2:n.145T>C
ENST00000524924.2:n.405T>C
ENST00000533371.6:c.556T>C	ENSP00000437066.1:p.Phe186Leu
ENST00000642892.1:c.556T>C	ENSP00000494165.1:p.Phe186Leu
ENST00000643342.1:c.358T>C
ENST00000643439.1:c.*1025T>C	ENSP00000495849.1:n.*1025T>C
ENST00000643479.1:n.1471T>C
ENST00000643516.1:c.794T>C
ENST00000644218.1:c.1096T>C	ENSP00000493574.1:p.Phe366Leu
ENST00000644683.1:c.*738T>C	ENSP00000494085.1:n.*738T>C
ENST00000644810.1:c.1006T>C	ENSP00000495895.1:p.Phe336Leu
ENST00000644831.1:n.1461T>C
ENST00000644933.1:c.*151T>C	ENSP00000496133.1:n.*151T>C
ENST00000645285.1:c.*151T>C	ENSP00000495058.1:n.*151T>C
ENST00000645331.1:n.2490T>C
ENST00000645620.1:c.556T>C	ENSP00000493657.1:p.Phe186Leu
ENST00000646691.1:n.1172T>C
ENST00000646777.1:n.1618T>C
ENST00000647016.1:n.1765T>C
ENST00000647152.1:c.556T>C	ENSP00000495893.1:p.Phe186Leu
ENST00000647209.1:c.*1154T>C	ENSP00000495558.1:n.*1154T>C
ENST00000647346.1:n.2305T>C
ENST00000299427.10:c.1285T>C	ENSP00000299427.6:p.Phe429Leu
ENST00000524611.1:n.163T>C
ENST00000524924.1:n.240T>C
ENST00000532191.1:n.338T>C
ENST00000533371.5:c.556T>C	ENSP00000437066.1:p.Phe186Leu
ENST00000611494.4:c.1285T>C	ENSP00000484546.1:p.Phe429Leu
NM_000391.3:c.1285T>C	NP_000382.3:p.Phe429Leu
NM_000391.4:c.1285T>C MANE Select	NP_000382.3:p.Phe429Leu