Canonical Allele Identifier: CA379472229

Gene: TPP1

Linked Data

• dbSNP Id: rs1320540751
• gnomAD v2: 11-6635917-C-T
• gnomAD v4: 11-6614686-C-T
• MyVariant Identifiers: chr11:g.6635917C>T (hg19) ; chr11:g.6614686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614686C>T , CM000673.2:g.6614686C>T	GRCh38
NC_000011.9:g.6635917C>T , CM000673.1:g.6635917C>T	GRCh37
NC_000011.8:g.6592493C>T	NCBI36
NG_008653.1:g.9776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1438G>A	ENSP00000507321.1:p.Val480Ile
ENST00000299427.12:c.1552G>A MANE Select	ENSP00000299427.6:p.Val518Ile
ENST00000524611.2:n.591G>A
ENST00000524924.2:n.672G>A
ENST00000533371.6:c.823G>A	ENSP00000437066.1:p.Val275Ile
ENST00000642892.1:c.823G>A	ENSP00000494165.1:p.Val275Ile
ENST00000643342.1:c.625G>A
ENST00000643439.1:c.*1292G>A	ENSP00000495849.1:n.*1292G>A
ENST00000643479.1:n.1738G>A
ENST00000643516.1:c.1061G>A
ENST00000644218.1:c.1363G>A	ENSP00000493574.1:p.Val455Ile
ENST00000644683.1:c.*1005G>A	ENSP00000494085.1:n.*1005G>A
ENST00000644810.1:c.1273G>A	ENSP00000495895.1:p.Val425Ile
ENST00000644831.1:n.1728G>A
ENST00000644933.1:c.*418G>A	ENSP00000496133.1:n.*418G>A
ENST00000645285.1:c.*418G>A	ENSP00000495058.1:n.*418G>A
ENST00000645331.1:n.2757G>A
ENST00000645620.1:c.823G>A	ENSP00000493657.1:p.Val275Ile
ENST00000646691.1:n.1439G>A
ENST00000646777.1:n.1885G>A
ENST00000647016.1:n.2032G>A
ENST00000647152.1:c.823G>A	ENSP00000495893.1:p.Val275Ile
ENST00000647209.1:c.*1421G>A	ENSP00000495558.1:n.*1421G>A
ENST00000647346.1:n.2572G>A
ENST00000299427.10:c.1552G>A	ENSP00000299427.6:p.Val518Ile
ENST00000524611.1:n.430G>A
ENST00000533371.5:c.823G>A	ENSP00000437066.1:p.Val275Ile
ENST00000611494.4:c.1552G>A	ENSP00000484546.1:p.Val518Ile
NM_000391.3:c.1552G>A	NP_000382.3:p.Val518Ile
NM_000391.4:c.1552G>A MANE Select	NP_000382.3:p.Val518Ile