Canonical Allele Identifier: CA597439670

Gene: TPP1

Linked Data

• dbSNP Id: rs1396599796
• gnomAD v2: 11-6638464-A-G
• gnomAD v4: 11-6617233-A-G
• MyVariant Identifiers: chr11:g.6638464A>G (hg19) ; chr11:g.6617233A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617233A>G , CM000673.2:g.6617233A>G	GRCh38
NC_000011.9:g.6638464A>G , CM000673.1:g.6638464A>G	GRCh37
NC_000011.8:g.6595040A>G	NCBI36
NG_008653.1:g.7229T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394+68T>C	ENSP00000507321.1:n.394+68T>C
ENST00000299427.12:c.508+68T>C MANE Select	ENSP00000299427.6:n.508+68T>C
ENST00000428886.7:n.664T>C
ENST00000436873.7:c.312+68T>C
ENST00000524788.2:n.1588T>C
ENST00000524903.2:n.1704T>C
ENST00000528571.6:c.*316T>C	ENSP00000434647.1:n.*316T>C
ENST00000528807.2:n.164+68T>C
ENST00000530040.2:n.479+126T>C
ENST00000533371.6:c.-222+68T>C	ENSP00000437066.1:n.-222+68T>C
ENST00000534644.6:n.457-80T>C
ENST00000642892.1:c.-221-80T>C	ENSP00000494165.1:n.-221-80T>C
ENST00000643439.1:c.*248+68T>C	ENSP00000495849.1:n.*248+68T>C
ENST00000643479.1:n.537+68T>C
ENST00000643516.1:c.395+68T>C
ENST00000644151.1:n.1868T>C
ENST00000644218.1:c.508+68T>C	ENSP00000493574.1:n.508+68T>C
ENST00000644683.1:c.451-80T>C	ENSP00000494085.1:n.451-80T>C
ENST00000644810.1:c.230-80T>C	ENSP00000495895.1:n.230-80T>C
ENST00000644831.1:n.605T>C
ENST00000644933.1:c.-222+68T>C	ENSP00000496133.1:n.-222+68T>C
ENST00000645020.1:n.1604T>C
ENST00000645285.1:c.-222+68T>C	ENSP00000495058.1:n.-222+68T>C
ENST00000645331.1:n.795T>C
ENST00000645620.1:c.-221-80T>C	ENSP00000493657.1:n.-221-80T>C
ENST00000646777.1:n.605T>C
ENST00000647016.1:n.909T>C
ENST00000647152.1:c.-222+68T>C	ENSP00000495893.1:n.-222+68T>C
ENST00000647209.1:c.*377+68T>C	ENSP00000495558.1:n.*377+68T>C
ENST00000647346.1:n.1528+68T>C
ENST00000299427.10:c.508+68T>C	ENSP00000299427.6:n.508+68T>C
ENST00000428886.6:n.598T>C
ENST00000436873.6:c.450+126T>C	ENSP00000398136.2:n.450+126T>C
ENST00000524788.1:n.129T>C
ENST00000528571.5:c.*248+68T>C	ENSP00000434647.1:n.*248+68T>C
ENST00000533371.5:c.-222+68T>C	ENSP00000437066.1:n.-222+68T>C
ENST00000534644.5:n.493+68T>C
ENST00000611494.4:c.508+68T>C	ENSP00000484546.1:n.508+68T>C
NM_000391.3:c.508+68T>C	NP_000382.3:n.508+68T>C
NM_000391.4:c.508+68T>C MANE Select	NP_000382.3:n.508+68T>C