Canonical Allele Identifier: CA379472227

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635917C>A (hg19) ; chr11:g.6614686C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1438G>T	ENSP00000507321.1:p.Val480Leu
ENST00000299427.12:c.1552G>T MANE Select	ENSP00000299427.6:p.Val518Leu
ENST00000524611.2:n.591G>T
ENST00000524924.2:n.672G>T
ENST00000533371.6:c.823G>T	ENSP00000437066.1:p.Val275Leu
ENST00000642892.1:c.823G>T	ENSP00000494165.1:p.Val275Leu
ENST00000643342.1:c.625G>T
ENST00000643439.1:c.*1292G>T	ENSP00000495849.1:n.*1292G>T
ENST00000643479.1:n.1738G>T
ENST00000643516.1:c.1061G>T
ENST00000644218.1:c.1363G>T	ENSP00000493574.1:p.Val455Leu
ENST00000644683.1:c.*1005G>T	ENSP00000494085.1:n.*1005G>T
ENST00000644810.1:c.1273G>T	ENSP00000495895.1:p.Val425Leu
ENST00000644831.1:n.1728G>T
ENST00000644933.1:c.*418G>T	ENSP00000496133.1:n.*418G>T
ENST00000645285.1:c.*418G>T	ENSP00000495058.1:n.*418G>T
ENST00000645331.1:n.2757G>T
ENST00000645620.1:c.823G>T	ENSP00000493657.1:p.Val275Leu
ENST00000646691.1:n.1439G>T
ENST00000646777.1:n.1885G>T
ENST00000647016.1:n.2032G>T
ENST00000647152.1:c.823G>T	ENSP00000495893.1:p.Val275Leu
ENST00000647209.1:c.*1421G>T	ENSP00000495558.1:n.*1421G>T
ENST00000647346.1:n.2572G>T
ENST00000299427.10:c.1552G>T	ENSP00000299427.6:p.Val518Leu
ENST00000524611.1:n.430G>T
ENST00000533371.5:c.823G>T	ENSP00000437066.1:p.Val275Leu
ENST00000611494.4:c.1552G>T	ENSP00000484546.1:p.Val518Leu
NM_000391.3:c.1552G>T	NP_000382.3:p.Val518Leu
NM_000391.4:c.1552G>T MANE Select	NP_000382.3:p.Val518Leu