Canonical Allele Identifier: CA379476339

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638915C>G (hg19) ; chr11:g.6617684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617684C>G , CM000673.2:g.6617684C>G	GRCh38
NC_000011.9:g.6638915C>G , CM000673.1:g.6638915C>G	GRCh37
NC_000011.8:g.6595491C>G	NCBI36
NG_008653.1:g.6778G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.208G>C	ENSP00000507321.1:p.Ala70Pro
ENST00000299427.12:c.322G>C MANE Select	ENSP00000299427.6:p.Ala108Pro
ENST00000428886.7:n.410G>C
ENST00000436873.7:c.126G>C
ENST00000524788.2:n.1334G>C
ENST00000524903.2:n.1450G>C
ENST00000528571.6:c.*62G>C	ENSP00000434647.1:n.*62G>C
ENST00000530040.2:n.351G>C
ENST00000533371.6:c.-408G>C	ENSP00000437066.1:n.-408G>C
ENST00000534644.6:n.323G>C
ENST00000642892.1:c.-355G>C	ENSP00000494165.1:n.-355G>C
ENST00000643439.1:c.*62G>C	ENSP00000495849.1:n.*62G>C
ENST00000643479.1:n.351G>C
ENST00000643516.1:c.209G>C
ENST00000644151.1:n.1614G>C
ENST00000644218.1:c.322G>C	ENSP00000493574.1:p.Ala108Pro
ENST00000644683.1:c.322G>C	ENSP00000494085.1:p.Ala108Pro
ENST00000644810.1:c.230-531G>C	ENSP00000495895.1:n.230-531G>C
ENST00000644831.1:n.351G>C
ENST00000644933.1:c.-408G>C	ENSP00000496133.1:n.-408G>C
ENST00000645020.1:n.1350G>C
ENST00000645285.1:c.-408G>C	ENSP00000495058.1:n.-408G>C
ENST00000645331.1:n.344G>C
ENST00000645620.1:c.-350G>C	ENSP00000493657.1:n.-350G>C
ENST00000646777.1:n.351G>C
ENST00000647016.1:n.655G>C
ENST00000647152.1:c.-408G>C	ENSP00000495893.1:n.-408G>C
ENST00000647209.1:c.*191G>C	ENSP00000495558.1:n.*191G>C
ENST00000647346.1:n.1342G>C
ENST00000299427.10:c.322G>C	ENSP00000299427.6:p.Ala108Pro
ENST00000428886.6:n.344G>C
ENST00000436873.6:c.322G>C	ENSP00000398136.2:p.Ala108Pro
ENST00000528571.5:c.*62G>C	ENSP00000434647.1:n.*62G>C
ENST00000530040.1:n.434G>C
ENST00000533371.5:c.-408G>C	ENSP00000437066.1:n.-408G>C
ENST00000534644.5:n.307G>C
ENST00000611494.4:c.322G>C	ENSP00000484546.1:p.Ala108Pro
NM_000391.3:c.322G>C	NP_000382.3:p.Ala108Pro
NM_000391.4:c.322G>C MANE Select	NP_000382.3:p.Ala108Pro