Canonical Allele Identifier: CA379476173

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1997255
• ClinVar RCV Id: RCV002791659
• MyVariant Identifiers: chr11:g.6638872C>A (hg19) ; chr11:g.6617641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617641C>A , CM000673.2:g.6617641C>A	GRCh38
NC_000011.9:g.6638872C>A , CM000673.1:g.6638872C>A	GRCh37
NC_000011.8:g.6595448C>A	NCBI36
NG_008653.1:g.6821G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.251G>T	ENSP00000507321.1:p.Cys84Phe
ENST00000299427.12:c.365G>T MANE Select	ENSP00000299427.6:p.Cys122Phe
ENST00000428886.7:n.453G>T
ENST00000436873.7:c.169G>T
ENST00000524788.2:n.1377G>T
ENST00000524903.2:n.1493G>T
ENST00000528571.6:c.*105G>T	ENSP00000434647.1:n.*105G>T
ENST00000530040.2:n.394G>T
ENST00000533371.6:c.-365G>T	ENSP00000437066.1:n.-365G>T
ENST00000534644.6:n.366G>T
ENST00000642892.1:c.-312G>T	ENSP00000494165.1:n.-312G>T
ENST00000643439.1:c.*105G>T	ENSP00000495849.1:n.*105G>T
ENST00000643479.1:n.394G>T
ENST00000643516.1:c.252G>T
ENST00000644151.1:n.1657G>T
ENST00000644218.1:c.365G>T	ENSP00000493574.1:p.Cys122Phe
ENST00000644683.1:c.365G>T	ENSP00000494085.1:p.Cys122Phe
ENST00000644810.1:c.230-488G>T	ENSP00000495895.1:n.230-488G>T
ENST00000644831.1:n.394G>T
ENST00000644933.1:c.-365G>T	ENSP00000496133.1:n.-365G>T
ENST00000645020.1:n.1393G>T
ENST00000645285.1:c.-365G>T	ENSP00000495058.1:n.-365G>T
ENST00000645331.1:n.387G>T
ENST00000645620.1:c.-307G>T	ENSP00000493657.1:n.-307G>T
ENST00000646777.1:n.394G>T
ENST00000647016.1:n.698G>T
ENST00000647152.1:c.-365G>T	ENSP00000495893.1:n.-365G>T
ENST00000647209.1:c.*234G>T	ENSP00000495558.1:n.*234G>T
ENST00000647346.1:n.1385G>T
ENST00000299427.10:c.365G>T	ENSP00000299427.6:p.Cys122Phe
ENST00000428886.6:n.387G>T
ENST00000436873.6:c.365G>T	ENSP00000398136.2:p.Cys122Phe
ENST00000528571.5:c.*105G>T	ENSP00000434647.1:n.*105G>T
ENST00000530040.1:n.477G>T
ENST00000533371.5:c.-365G>T	ENSP00000437066.1:n.-365G>T
ENST00000534644.5:n.350G>T
ENST00000611494.4:c.365G>T	ENSP00000484546.1:p.Cys122Phe
NM_000391.3:c.365G>T	NP_000382.3:p.Cys122Phe
NM_000391.4:c.365G>T MANE Select	NP_000382.3:p.Cys122Phe