Canonical Allele Identifier: CA5858707

Gene: TPP1

Linked Data

• dbSNP Id: rs763241128
• ExAC: 11:6636750 A / G
• gnomAD v2: 11-6636750-A-G
• gnomAD v4: 11-6615519-A-G
• MyVariant Identifiers: chr11:g.6636750A>G (hg19) ; chr11:g.6615519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615519A>G , CM000673.2:g.6615519A>G	GRCh38
NC_000011.9:g.6636750A>G , CM000673.1:g.6636750A>G	GRCh37
NC_000011.8:g.6593326A>G	NCBI36
NG_008653.1:g.8943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1075T>C	ENSP00000507321.1:p.Phe359Leu
ENST00000299427.12:c.1189T>C MANE Select	ENSP00000299427.6:p.Phe397Leu
ENST00000436873.7:c.426T>C
ENST00000524924.2:n.309T>C
ENST00000533371.6:c.460T>C	ENSP00000437066.1:p.Phe154Leu
ENST00000642892.1:c.460T>C	ENSP00000494165.1:p.Phe154Leu
ENST00000643342.1:c.262T>C
ENST00000643439.1:c.*929T>C	ENSP00000495849.1:n.*929T>C
ENST00000643479.1:n.1375T>C
ENST00000643516.1:c.698T>C
ENST00000644218.1:c.1000T>C	ENSP00000493574.1:p.Phe334Leu
ENST00000644683.1:c.*642T>C	ENSP00000494085.1:n.*642T>C
ENST00000644810.1:c.910T>C	ENSP00000495895.1:p.Phe304Leu
ENST00000644831.1:n.1365T>C
ENST00000644933.1:c.*55T>C	ENSP00000496133.1:n.*55T>C
ENST00000645285.1:c.*55T>C	ENSP00000495058.1:n.*55T>C
ENST00000645331.1:n.2394T>C
ENST00000645620.1:c.460T>C	ENSP00000493657.1:p.Phe154Leu
ENST00000646691.1:n.964T>C
ENST00000646777.1:n.1522T>C
ENST00000647016.1:n.1669T>C
ENST00000647152.1:c.460T>C	ENSP00000495893.1:p.Phe154Leu
ENST00000647209.1:c.*1058T>C	ENSP00000495558.1:n.*1058T>C
ENST00000647346.1:n.2209T>C
ENST00000299427.10:c.1189T>C	ENSP00000299427.6:p.Phe397Leu
ENST00000524924.1:n.144T>C
ENST00000532191.1:n.242T>C
ENST00000533371.5:c.460T>C	ENSP00000437066.1:p.Phe154Leu
ENST00000611494.4:c.1189T>C	ENSP00000484546.1:p.Phe397Leu
NM_000391.3:c.1189T>C	NP_000382.3:p.Phe397Leu
NM_000391.4:c.1189T>C MANE Select	NP_000382.3:p.Phe397Leu