Canonical Allele Identifier: CA472922253

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636441G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615210G>T , CM000673.2:g.6615210G>T	GRCh38
NC_000011.9:g.6636441G>T , CM000673.1:g.6636441G>T	GRCh37
NC_000011.8:g.6593017G>T	NCBI36
NG_008653.1:g.9252C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1272C>A	ENSP00000507321.1:p.Val424=
ENST00000299427.12:c.1386C>A MANE Select	ENSP00000299427.6:p.Val462=
ENST00000524611.2:n.246C>A
ENST00000524924.2:n.506C>A
ENST00000533371.6:c.657C>A	ENSP00000437066.1:p.Val219=
ENST00000642892.1:c.657C>A	ENSP00000494165.1:p.Val219=
ENST00000643342.1:c.459C>A
ENST00000643439.1:c.*1126C>A	ENSP00000495849.1:n.*1126C>A
ENST00000643479.1:n.1572C>A
ENST00000643516.1:c.895C>A
ENST00000644218.1:c.1197C>A	ENSP00000493574.1:p.Val399=
ENST00000644683.1:c.*839C>A	ENSP00000494085.1:n.*839C>A
ENST00000644810.1:c.1107C>A	ENSP00000495895.1:p.Val369=
ENST00000644831.1:n.1562C>A
ENST00000644933.1:c.*252C>A	ENSP00000496133.1:n.*252C>A
ENST00000645285.1:c.*252C>A	ENSP00000495058.1:n.*252C>A
ENST00000645331.1:n.2591C>A
ENST00000645620.1:c.657C>A	ENSP00000493657.1:p.Val219=
ENST00000646691.1:n.1273C>A
ENST00000646777.1:n.1719C>A
ENST00000647016.1:n.1866C>A
ENST00000647152.1:c.657C>A	ENSP00000495893.1:p.Val219=
ENST00000647209.1:c.*1255C>A	ENSP00000495558.1:n.*1255C>A
ENST00000647346.1:n.2406C>A
ENST00000299427.10:c.1386C>A	ENSP00000299427.6:p.Val462=
ENST00000524611.1:n.264C>A
ENST00000533371.5:c.657C>A	ENSP00000437066.1:p.Val219=
ENST00000611494.4:c.1386C>A	ENSP00000484546.1:p.Val462=
NM_000391.3:c.1386C>A	NP_000382.3:p.Val462=
NM_000391.4:c.1386C>A MANE Select	NP_000382.3:p.Val462=