Canonical Allele Identifier: CA379475523

Gene: TPP1

Linked Data

• dbSNP Id: rs1303710593
• gnomAD v2: 11-6638313-C-G
• gnomAD v4: 11-6617082-C-G
• MyVariant Identifiers: chr11:g.6638313C>G (hg19) ; chr11:g.6617082C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617082C>G , CM000673.2:g.6617082C>G	GRCh38
NC_000011.9:g.6638313C>G , CM000673.1:g.6638313C>G	GRCh37
NC_000011.8:g.6594889C>G	NCBI36
NG_008653.1:g.7380G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.466G>C	ENSP00000507321.1:p.Val156Leu
ENST00000299427.12:c.580G>C MANE Select	ENSP00000299427.6:p.Val194Leu
ENST00000428886.7:n.815G>C
ENST00000436873.7:c.312+219G>C
ENST00000524788.2:n.1739G>C
ENST00000524903.2:n.1855G>C
ENST00000528807.2:n.236G>C
ENST00000530040.2:n.479+277G>C
ENST00000533371.6:c.-150G>C	ENSP00000437066.1:n.-150G>C
ENST00000534644.6:n.528G>C
ENST00000642892.1:c.-150G>C	ENSP00000494165.1:n.-150G>C
ENST00000643439.1:c.*320G>C	ENSP00000495849.1:n.*320G>C
ENST00000643479.1:n.609G>C
ENST00000643516.1:c.395+219G>C
ENST00000644151.1:n.2019G>C
ENST00000644218.1:c.580G>C	ENSP00000493574.1:p.Val194Leu
ENST00000644683.1:c.*33G>C	ENSP00000494085.1:n.*33G>C
ENST00000644810.1:c.301G>C	ENSP00000495895.1:p.Val101Leu
ENST00000644831.1:n.756G>C
ENST00000644933.1:c.-150G>C	ENSP00000496133.1:n.-150G>C
ENST00000645020.1:n.1755G>C
ENST00000645285.1:c.-150G>C	ENSP00000495058.1:n.-150G>C
ENST00000645331.1:n.946G>C
ENST00000645620.1:c.-150G>C	ENSP00000493657.1:n.-150G>C
ENST00000646777.1:n.756G>C
ENST00000647016.1:n.1060G>C
ENST00000647152.1:c.-150G>C	ENSP00000495893.1:n.-150G>C
ENST00000647209.1:c.*449G>C	ENSP00000495558.1:n.*449G>C
ENST00000647346.1:n.1600G>C
ENST00000299427.10:c.580G>C	ENSP00000299427.6:p.Val194Leu
ENST00000428886.6:n.749G>C
ENST00000436873.6:c.450+277G>C	ENSP00000398136.2:n.450+277G>C
ENST00000524788.1:n.280G>C
ENST00000528571.5:c.*320G>C	ENSP00000434647.1:n.*320G>C
ENST00000528807.1:n.130G>C
ENST00000533371.5:c.-150G>C	ENSP00000437066.1:n.-150G>C
ENST00000534644.5:n.565G>C
ENST00000611494.4:c.580G>C	ENSP00000484546.1:p.Val194Leu
NM_000391.3:c.580G>C	NP_000382.3:p.Val194Leu
NM_000391.4:c.580G>C MANE Select	NP_000382.3:p.Val194Leu