Canonical Allele Identifier: CA379472534

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615185-C-A
• MyVariant Identifiers: chr11:g.6636416C>A (hg19) ; chr11:g.6615185C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615185C>A , CM000673.2:g.6615185C>A	GRCh38
NC_000011.9:g.6636416C>A , CM000673.1:g.6636416C>A	GRCh37
NC_000011.8:g.6592992C>A	NCBI36
NG_008653.1:g.9277G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1297G>T	ENSP00000507321.1:p.Val433Leu
ENST00000299427.12:c.1411G>T MANE Select	ENSP00000299427.6:p.Val471Leu
ENST00000524611.2:n.271G>T
ENST00000524924.2:n.531G>T
ENST00000533371.6:c.682G>T	ENSP00000437066.1:p.Val228Leu
ENST00000642892.1:c.682G>T	ENSP00000494165.1:p.Val228Leu
ENST00000643342.1:c.484G>T
ENST00000643439.1:c.*1151G>T	ENSP00000495849.1:n.*1151G>T
ENST00000643479.1:n.1597G>T
ENST00000643516.1:c.920G>T
ENST00000644218.1:c.1222G>T	ENSP00000493574.1:p.Val408Leu
ENST00000644683.1:c.*864G>T	ENSP00000494085.1:n.*864G>T
ENST00000644810.1:c.1132G>T	ENSP00000495895.1:p.Val378Leu
ENST00000644831.1:n.1587G>T
ENST00000644933.1:c.*277G>T	ENSP00000496133.1:n.*277G>T
ENST00000645285.1:c.*277G>T	ENSP00000495058.1:n.*277G>T
ENST00000645331.1:n.2616G>T
ENST00000645620.1:c.682G>T	ENSP00000493657.1:p.Val228Leu
ENST00000646691.1:n.1298G>T
ENST00000646777.1:n.1744G>T
ENST00000647016.1:n.1891G>T
ENST00000647152.1:c.682G>T	ENSP00000495893.1:p.Val228Leu
ENST00000647209.1:c.*1280G>T	ENSP00000495558.1:n.*1280G>T
ENST00000647346.1:n.2431G>T
ENST00000299427.10:c.1411G>T	ENSP00000299427.6:p.Val471Leu
ENST00000524611.1:n.289G>T
ENST00000533371.5:c.682G>T	ENSP00000437066.1:p.Val228Leu
ENST00000611494.4:c.1411G>T	ENSP00000484546.1:p.Val471Leu
NM_000391.3:c.1411G>T	NP_000382.3:p.Val471Leu
NM_000391.4:c.1411G>T MANE Select	NP_000382.3:p.Val471Leu