Canonical Allele Identifier: CA472922426

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637589G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616358G>T , CM000673.2:g.6616358G>T	GRCh38
NC_000011.9:g.6637589G>T , CM000673.1:g.6637589G>T	GRCh37
NC_000011.8:g.6594165G>T	NCBI36
NG_008653.1:g.8104C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.918C>A	ENSP00000507321.1:p.Leu306=
ENST00000299427.12:c.1032C>A MANE Select	ENSP00000299427.6:p.Leu344=
ENST00000436873.7:c.313-284C>A
ENST00000533371.6:c.303C>A	ENSP00000437066.1:p.Leu101=
ENST00000642892.1:c.303C>A	ENSP00000494165.1:p.Leu101=
ENST00000643342.1:c.122C>A
ENST00000643439.1:c.*772C>A	ENSP00000495849.1:n.*772C>A
ENST00000643479.1:n.1218C>A
ENST00000643516.1:c.541C>A
ENST00000644218.1:c.887-284C>A	ENSP00000493574.1:n.887-284C>A
ENST00000644683.1:c.*485C>A	ENSP00000494085.1:n.*485C>A
ENST00000644810.1:c.753C>A	ENSP00000495895.1:p.Leu251=
ENST00000644831.1:n.1208C>A
ENST00000644933.1:c.303C>A	ENSP00000496133.1:p.Leu101=
ENST00000645285.1:c.158-284C>A	ENSP00000495058.1:n.158-284C>A
ENST00000645331.1:n.1555C>A
ENST00000645620.1:c.303C>A	ENSP00000493657.1:p.Leu101=
ENST00000646691.1:n.125C>A
ENST00000646777.1:n.1365C>A
ENST00000647016.1:n.1512C>A
ENST00000647152.1:c.303C>A	ENSP00000495893.1:p.Leu101=
ENST00000647209.1:c.*901C>A	ENSP00000495558.1:n.*901C>A
ENST00000647346.1:n.2052C>A
ENST00000299427.10:c.1032C>A	ENSP00000299427.6:p.Leu344=
ENST00000533371.5:c.303C>A	ENSP00000437066.1:p.Leu101=
ENST00000611494.4:c.1032C>A	ENSP00000484546.1:p.Leu344=
NM_000391.3:c.1032C>A	NP_000382.3:p.Leu344=
NM_000391.4:c.1032C>A MANE Select	NP_000382.3:p.Leu344=