Canonical Allele Identifier: CA472771551

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2835149
• ClinVar RCV Id: RCV003686995
• MyVariant Identifiers: chr11:g.6636694C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615463C>T , CM000673.2:g.6615463C>T	GRCh38
NC_000011.9:g.6636694C>T , CM000673.1:g.6636694C>T	GRCh37
NC_000011.8:g.6593270C>T	NCBI36
NG_008653.1:g.8999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1131G>A	ENSP00000507321.1:p.Val377=
ENST00000299427.12:c.1245G>A MANE Select	ENSP00000299427.6:p.Val415=
ENST00000436873.7:c.482G>A
ENST00000524924.2:n.365G>A
ENST00000533371.6:c.516G>A	ENSP00000437066.1:p.Val172=
ENST00000642892.1:c.516G>A	ENSP00000494165.1:p.Val172=
ENST00000643342.1:c.318G>A
ENST00000643439.1:c.*985G>A	ENSP00000495849.1:n.*985G>A
ENST00000643479.1:n.1431G>A
ENST00000643516.1:c.754G>A
ENST00000644218.1:c.1056G>A	ENSP00000493574.1:p.Val352=
ENST00000644683.1:c.*698G>A	ENSP00000494085.1:n.*698G>A
ENST00000644810.1:c.966G>A	ENSP00000495895.1:p.Val322=
ENST00000644831.1:n.1421G>A
ENST00000644933.1:c.*111G>A	ENSP00000496133.1:n.*111G>A
ENST00000645285.1:c.*111G>A	ENSP00000495058.1:n.*111G>A
ENST00000645331.1:n.2450G>A
ENST00000645620.1:c.516G>A	ENSP00000493657.1:p.Val172=
ENST00000646691.1:n.1020G>A
ENST00000646777.1:n.1578G>A
ENST00000647016.1:n.1725G>A
ENST00000647152.1:c.516G>A	ENSP00000495893.1:p.Val172=
ENST00000647209.1:c.*1114G>A	ENSP00000495558.1:n.*1114G>A
ENST00000647346.1:n.2265G>A
ENST00000299427.10:c.1245G>A	ENSP00000299427.6:p.Val415=
ENST00000524611.1:n.11G>A
ENST00000524924.1:n.200G>A
ENST00000532191.1:n.298G>A
ENST00000533371.5:c.516G>A	ENSP00000437066.1:p.Val172=
ENST00000611494.4:c.1245G>A	ENSP00000484546.1:p.Val415=
NM_000391.3:c.1245G>A	NP_000382.3:p.Val415=
NM_000391.4:c.1245G>A MANE Select	NP_000382.3:p.Val415=