Canonical Allele Identifier: CA319171

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207572
• ClinVar RCV Id: RCV000189762 ; RCV001104754
• dbSNP Id: rs757507462
• ExAC: 11:6638567 T / G
• gnomAD v2: 11-6638567-T-G
• gnomAD v3: 11-6617336-T-G
• gnomAD v4: 11-6617336-T-G
• MyVariant Identifiers: chr11:g.6638567T>G (hg19) ; chr11:g.6617336T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617336T>G , CM000673.2:g.6617336T>G	GRCh38
NC_000011.9:g.6638567T>G , CM000673.1:g.6638567T>G	GRCh37
NC_000011.8:g.6595143T>G	NCBI36
NG_008653.1:g.7126A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.359A>C	ENSP00000507321.1:p.Gln120Pro
ENST00000299427.12:c.473A>C MANE Select	ENSP00000299427.6:p.Gln158Pro
ENST00000428886.7:n.561A>C
ENST00000436873.7:c.277A>C
ENST00000524788.2:n.1485A>C
ENST00000524903.2:n.1601A>C
ENST00000528571.6:c.*213A>C	ENSP00000434647.1:n.*213A>C
ENST00000528807.2:n.129A>C
ENST00000530040.2:n.479+23A>C
ENST00000533371.6:c.-257A>C	ENSP00000437066.1:n.-257A>C
ENST00000534644.6:n.456+18A>C
ENST00000642892.1:c.-222+18A>C	ENSP00000494165.1:n.-222+18A>C
ENST00000643439.1:c.*213A>C	ENSP00000495849.1:n.*213A>C
ENST00000643479.1:n.502A>C
ENST00000643516.1:c.360A>C
ENST00000644151.1:n.1765A>C
ENST00000644218.1:c.473A>C	ENSP00000493574.1:p.Gln158Pro
ENST00000644683.1:c.450+23A>C	ENSP00000494085.1:n.450+23A>C
ENST00000644810.1:c.230-183A>C	ENSP00000495895.1:n.230-183A>C
ENST00000644831.1:n.502A>C
ENST00000644933.1:c.-257A>C	ENSP00000496133.1:n.-257A>C
ENST00000645020.1:n.1501A>C
ENST00000645285.1:c.-257A>C	ENSP00000495058.1:n.-257A>C
ENST00000645331.1:n.692A>C
ENST00000645620.1:c.-222+23A>C	ENSP00000493657.1:n.-222+23A>C
ENST00000646777.1:n.502A>C
ENST00000647016.1:n.806A>C
ENST00000647152.1:c.-257A>C	ENSP00000495893.1:n.-257A>C
ENST00000647209.1:c.*342A>C	ENSP00000495558.1:n.*342A>C
ENST00000647346.1:n.1493A>C
ENST00000299427.10:c.473A>C	ENSP00000299427.6:p.Gln158Pro
ENST00000428886.6:n.495A>C
ENST00000436873.6:c.450+23A>C	ENSP00000398136.2:n.450+23A>C
ENST00000524788.1:n.26A>C
ENST00000528571.5:c.*213A>C	ENSP00000434647.1:n.*213A>C
ENST00000533371.5:c.-257A>C	ENSP00000437066.1:n.-257A>C
ENST00000534644.5:n.458A>C
ENST00000611494.4:c.473A>C	ENSP00000484546.1:p.Gln158Pro
NM_000391.3:c.473A>C	NP_000382.3:p.Gln158Pro
NM_000391.4:c.473A>C MANE Select	NP_000382.3:p.Gln158Pro