Canonical Allele Identifier: CA379472030

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635826C>A (hg19) ; chr11:g.6614595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614595C>A , CM000673.2:g.6614595C>A	GRCh38
NC_000011.9:g.6635826C>A , CM000673.1:g.6635826C>A	GRCh37
NC_000011.8:g.6592402C>A	NCBI36
NG_008653.1:g.9867G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1529G>T	ENSP00000507321.1:p.Trp510Leu
ENST00000299427.12:c.1643G>T MANE Select	ENSP00000299427.6:p.Trp548Leu
ENST00000524611.2:n.682G>T
ENST00000533371.6:c.914G>T	ENSP00000437066.1:p.Trp305Leu
ENST00000642892.1:c.914G>T	ENSP00000494165.1:p.Trp305Leu
ENST00000643342.1:c.716G>T
ENST00000643439.1:c.*1383G>T	ENSP00000495849.1:n.*1383G>T
ENST00000643479.1:n.1829G>T
ENST00000643516.1:c.1152G>T
ENST00000644218.1:c.1454G>T	ENSP00000493574.1:p.Trp485Leu
ENST00000644683.1:c.*1096G>T	ENSP00000494085.1:n.*1096G>T
ENST00000644810.1:c.1364G>T	ENSP00000495895.1:p.Trp455Leu
ENST00000644831.1:n.1819G>T
ENST00000644933.1:c.*509G>T	ENSP00000496133.1:n.*509G>T
ENST00000645285.1:c.*509G>T	ENSP00000495058.1:n.*509G>T
ENST00000645331.1:n.2848G>T
ENST00000645620.1:c.914G>T	ENSP00000493657.1:p.Trp305Leu
ENST00000646691.1:n.1530G>T
ENST00000646777.1:n.1976G>T
ENST00000647016.1:n.2123G>T
ENST00000647152.1:c.914G>T	ENSP00000495893.1:p.Trp305Leu
ENST00000647209.1:c.*1512G>T	ENSP00000495558.1:n.*1512G>T
ENST00000647346.1:n.2663G>T
ENST00000299427.10:c.1643G>T	ENSP00000299427.6:p.Trp548Leu
ENST00000533371.5:c.914G>T	ENSP00000437066.1:p.Trp305Leu
ENST00000611494.4:c.1643G>T	ENSP00000484546.1:p.Trp548Leu
NM_000391.3:c.1643G>T	NP_000382.3:p.Trp548Leu
NM_000391.4:c.1643G>T MANE Select	NP_000382.3:p.Trp548Leu