Canonical Allele Identifier: CA379475060

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637987T>A (hg19) ; chr11:g.6616756T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616756T>A , CM000673.2:g.6616756T>A	GRCh38
NC_000011.9:g.6637987T>A , CM000673.1:g.6637987T>A	GRCh37
NC_000011.8:g.6594563T>A	NCBI36
NG_008653.1:g.7706A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.677A>T	ENSP00000507321.1:p.Gln226Leu
ENST00000299427.12:c.791A>T MANE Select	ENSP00000299427.6:p.Gln264Leu
ENST00000436873.7:c.312+545A>T
ENST00000524788.2:n.1950A>T
ENST00000524903.2:n.2066A>T
ENST00000528807.2:n.447A>T
ENST00000530040.2:n.480-253A>T
ENST00000533371.6:c.62A>T	ENSP00000437066.1:p.Gln21Leu
ENST00000642892.1:c.62A>T	ENSP00000494165.1:p.Gln21Leu
ENST00000643439.1:c.*531A>T	ENSP00000495849.1:n.*531A>T
ENST00000643479.1:n.820A>T
ENST00000643516.1:c.396-253A>T
ENST00000644151.1:n.2230A>T
ENST00000644218.1:c.791A>T	ENSP00000493574.1:p.Gln264Leu
ENST00000644683.1:c.*244A>T	ENSP00000494085.1:n.*244A>T
ENST00000644810.1:c.512A>T	ENSP00000495895.1:p.Gln171Leu
ENST00000644831.1:n.967A>T
ENST00000644933.1:c.62A>T	ENSP00000496133.1:p.Gln21Leu
ENST00000645020.1:n.2081A>T
ENST00000645285.1:c.62A>T	ENSP00000495058.1:p.Gln21Leu
ENST00000645331.1:n.1157A>T
ENST00000645620.1:c.62A>T	ENSP00000493657.1:p.Gln21Leu
ENST00000646777.1:n.967A>T
ENST00000647016.1:n.1271A>T
ENST00000647152.1:c.62A>T	ENSP00000495893.1:p.Gln21Leu
ENST00000647209.1:c.*660A>T	ENSP00000495558.1:n.*660A>T
ENST00000647346.1:n.1811A>T
ENST00000299427.10:c.791A>T	ENSP00000299427.6:p.Gln264Leu
ENST00000436873.6:c.451-253A>T	ENSP00000398136.2:n.451-253A>T
ENST00000524788.1:n.491A>T
ENST00000528807.1:n.341A>T
ENST00000533371.5:c.62A>T	ENSP00000437066.1:p.Gln21Leu
ENST00000611494.4:c.791A>T	ENSP00000484546.1:p.Gln264Leu
NM_000391.3:c.791A>T	NP_000382.3:p.Gln264Leu
NM_000391.4:c.791A>T MANE Select	NP_000382.3:p.Gln264Leu