Canonical Allele Identifier: CA472922797

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616981-A-G
• MyVariant Identifiers: chr11:g.6638212A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616981A>G , CM000673.2:g.6616981A>G	GRCh38
NC_000011.9:g.6638212A>G , CM000673.1:g.6638212A>G	GRCh37
NC_000011.8:g.6594788A>G	NCBI36
NG_008653.1:g.7481T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.567T>C	ENSP00000507321.1:p.Cys189=
ENST00000299427.12:c.681T>C MANE Select	ENSP00000299427.6:p.Cys227=
ENST00000436873.7:c.312+320T>C
ENST00000524788.2:n.1840T>C
ENST00000524903.2:n.1956T>C
ENST00000528807.2:n.337T>C
ENST00000530040.2:n.479+378T>C
ENST00000533371.6:c.-49T>C	ENSP00000437066.1:n.-49T>C
ENST00000534644.6:n.629T>C
ENST00000642892.1:c.-49T>C	ENSP00000494165.1:n.-49T>C
ENST00000643439.1:c.*421T>C	ENSP00000495849.1:n.*421T>C
ENST00000643479.1:n.710T>C
ENST00000643516.1:c.395+320T>C
ENST00000644151.1:n.2120T>C
ENST00000644218.1:c.681T>C	ENSP00000493574.1:p.Cys227=
ENST00000644683.1:c.*134T>C	ENSP00000494085.1:n.*134T>C
ENST00000644810.1:c.402T>C	ENSP00000495895.1:p.Cys134=
ENST00000644831.1:n.857T>C
ENST00000644933.1:c.-49T>C	ENSP00000496133.1:n.-49T>C
ENST00000645020.1:n.1856T>C
ENST00000645285.1:c.-49T>C	ENSP00000495058.1:n.-49T>C
ENST00000645331.1:n.1047T>C
ENST00000645620.1:c.-49T>C	ENSP00000493657.1:n.-49T>C
ENST00000646777.1:n.857T>C
ENST00000647016.1:n.1161T>C
ENST00000647152.1:c.-49T>C	ENSP00000495893.1:n.-49T>C
ENST00000647209.1:c.*550T>C	ENSP00000495558.1:n.*550T>C
ENST00000647346.1:n.1701T>C
ENST00000299427.10:c.681T>C	ENSP00000299427.6:p.Cys227=
ENST00000436873.6:c.450+378T>C	ENSP00000398136.2:n.450+378T>C
ENST00000524788.1:n.381T>C
ENST00000528807.1:n.231T>C
ENST00000533371.5:c.-49T>C	ENSP00000437066.1:n.-49T>C
ENST00000611494.4:c.681T>C	ENSP00000484546.1:p.Cys227=
NM_000391.3:c.681T>C	NP_000382.3:p.Cys227=
NM_000391.4:c.681T>C MANE Select	NP_000382.3:p.Cys227=