Canonical Allele Identifier: CA379475491

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617067-C-A
• MyVariant Identifiers: chr11:g.6638298C>A (hg19) ; chr11:g.6617067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617067C>A , CM000673.2:g.6617067C>A	GRCh38
NC_000011.9:g.6638298C>A , CM000673.1:g.6638298C>A	GRCh37
NC_000011.8:g.6594874C>A	NCBI36
NG_008653.1:g.7395G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.481G>T	ENSP00000507321.1:p.Gly161Trp
ENST00000299427.12:c.595G>T MANE Select	ENSP00000299427.6:p.Gly199Trp
ENST00000428886.7:n.830G>T
ENST00000436873.7:c.312+234G>T
ENST00000524788.2:n.1754G>T
ENST00000524903.2:n.1870G>T
ENST00000528807.2:n.251G>T
ENST00000530040.2:n.479+292G>T
ENST00000533371.6:c.-135G>T	ENSP00000437066.1:n.-135G>T
ENST00000534644.6:n.543G>T
ENST00000642892.1:c.-135G>T	ENSP00000494165.1:n.-135G>T
ENST00000643439.1:c.*335G>T	ENSP00000495849.1:n.*335G>T
ENST00000643479.1:n.624G>T
ENST00000643516.1:c.395+234G>T
ENST00000644151.1:n.2034G>T
ENST00000644218.1:c.595G>T	ENSP00000493574.1:p.Gly199Trp
ENST00000644683.1:c.*48G>T	ENSP00000494085.1:n.*48G>T
ENST00000644810.1:c.316G>T	ENSP00000495895.1:p.Gly106Trp
ENST00000644831.1:n.771G>T
ENST00000644933.1:c.-135G>T	ENSP00000496133.1:n.-135G>T
ENST00000645020.1:n.1770G>T
ENST00000645285.1:c.-135G>T	ENSP00000495058.1:n.-135G>T
ENST00000645331.1:n.961G>T
ENST00000645620.1:c.-135G>T	ENSP00000493657.1:n.-135G>T
ENST00000646777.1:n.771G>T
ENST00000647016.1:n.1075G>T
ENST00000647152.1:c.-135G>T	ENSP00000495893.1:n.-135G>T
ENST00000647209.1:c.*464G>T	ENSP00000495558.1:n.*464G>T
ENST00000647346.1:n.1615G>T
ENST00000299427.10:c.595G>T	ENSP00000299427.6:p.Gly199Trp
ENST00000428886.6:n.764G>T
ENST00000436873.6:c.450+292G>T	ENSP00000398136.2:n.450+292G>T
ENST00000524788.1:n.295G>T
ENST00000528571.5:c.*335G>T	ENSP00000434647.1:n.*335G>T
ENST00000528807.1:n.145G>T
ENST00000533371.5:c.-135G>T	ENSP00000437066.1:n.-135G>T
ENST00000534644.5:n.580G>T
ENST00000611494.4:c.595G>T	ENSP00000484546.1:p.Gly199Trp
NM_000391.3:c.595G>T	NP_000382.3:p.Gly199Trp
NM_000391.4:c.595G>T MANE Select	NP_000382.3:p.Gly199Trp