Canonical Allele Identifier: CA379475118

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638017T>G (hg19) ; chr11:g.6616786T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616786T>G , CM000673.2:g.6616786T>G	GRCh38
NC_000011.9:g.6638017T>G , CM000673.1:g.6638017T>G	GRCh37
NC_000011.8:g.6594593T>G	NCBI36
NG_008653.1:g.7676A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.647A>C	ENSP00000507321.1:p.Gln216Pro
ENST00000299427.12:c.761A>C MANE Select	ENSP00000299427.6:p.Gln254Pro
ENST00000436873.7:c.312+515A>C
ENST00000524788.2:n.1920A>C
ENST00000524903.2:n.2036A>C
ENST00000528807.2:n.417A>C
ENST00000530040.2:n.480-283A>C
ENST00000533371.6:c.32A>C	ENSP00000437066.1:p.Gln11Pro
ENST00000642892.1:c.32A>C	ENSP00000494165.1:p.Gln11Pro
ENST00000643439.1:c.*501A>C	ENSP00000495849.1:n.*501A>C
ENST00000643479.1:n.790A>C
ENST00000643516.1:c.396-283A>C
ENST00000644151.1:n.2200A>C
ENST00000644218.1:c.761A>C	ENSP00000493574.1:p.Gln254Pro
ENST00000644683.1:c.*214A>C	ENSP00000494085.1:n.*214A>C
ENST00000644810.1:c.482A>C	ENSP00000495895.1:p.Gln161Pro
ENST00000644831.1:n.937A>C
ENST00000644933.1:c.32A>C	ENSP00000496133.1:p.Gln11Pro
ENST00000645020.1:n.2051A>C
ENST00000645285.1:c.32A>C	ENSP00000495058.1:p.Gln11Pro
ENST00000645331.1:n.1127A>C
ENST00000645620.1:c.32A>C	ENSP00000493657.1:p.Gln11Pro
ENST00000646777.1:n.937A>C
ENST00000647016.1:n.1241A>C
ENST00000647152.1:c.32A>C	ENSP00000495893.1:p.Gln11Pro
ENST00000647209.1:c.*630A>C	ENSP00000495558.1:n.*630A>C
ENST00000647346.1:n.1781A>C
ENST00000299427.10:c.761A>C	ENSP00000299427.6:p.Gln254Pro
ENST00000436873.6:c.451-283A>C	ENSP00000398136.2:n.451-283A>C
ENST00000524788.1:n.461A>C
ENST00000528807.1:n.311A>C
ENST00000533371.5:c.32A>C	ENSP00000437066.1:p.Gln11Pro
ENST00000611494.4:c.761A>C	ENSP00000484546.1:p.Gln254Pro
NM_000391.3:c.761A>C	NP_000382.3:p.Gln254Pro
NM_000391.4:c.761A>C MANE Select	NP_000382.3:p.Gln254Pro