Canonical Allele Identifier: CA472922885

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1557291
• ClinVar RCV Id: RCV002188239
• dbSNP Id: rs2134595597
• MyVariant Identifiers: chr11:g.6638554G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617323G>A , CM000673.2:g.6617323G>A	GRCh38
NC_000011.9:g.6638554G>A , CM000673.1:g.6638554G>A	GRCh37
NC_000011.8:g.6595130G>A	NCBI36
NG_008653.1:g.7139C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.372C>T	ENSP00000507321.1:p.Ala124=
ENST00000299427.12:c.486C>T MANE Select	ENSP00000299427.6:p.Ala162=
ENST00000428886.7:n.574C>T
ENST00000436873.7:c.290C>T
ENST00000524788.2:n.1498C>T
ENST00000524903.2:n.1614C>T
ENST00000528571.6:c.*226C>T	ENSP00000434647.1:n.*226C>T
ENST00000528807.2:n.142C>T
ENST00000530040.2:n.479+36C>T
ENST00000533371.6:c.-244C>T	ENSP00000437066.1:n.-244C>T
ENST00000534644.6:n.456+31C>T
ENST00000642892.1:c.-222+31C>T	ENSP00000494165.1:n.-222+31C>T
ENST00000643439.1:c.*226C>T	ENSP00000495849.1:n.*226C>T
ENST00000643479.1:n.515C>T
ENST00000643516.1:c.373C>T
ENST00000644151.1:n.1778C>T
ENST00000644218.1:c.486C>T	ENSP00000493574.1:p.Ala162=
ENST00000644683.1:c.450+36C>T	ENSP00000494085.1:n.450+36C>T
ENST00000644810.1:c.230-170C>T	ENSP00000495895.1:n.230-170C>T
ENST00000644831.1:n.515C>T
ENST00000644933.1:c.-244C>T	ENSP00000496133.1:n.-244C>T
ENST00000645020.1:n.1514C>T
ENST00000645285.1:c.-244C>T	ENSP00000495058.1:n.-244C>T
ENST00000645331.1:n.705C>T
ENST00000645620.1:c.-222+36C>T	ENSP00000493657.1:n.-222+36C>T
ENST00000646777.1:n.515C>T
ENST00000647016.1:n.819C>T
ENST00000647152.1:c.-244C>T	ENSP00000495893.1:n.-244C>T
ENST00000647209.1:c.*355C>T	ENSP00000495558.1:n.*355C>T
ENST00000647346.1:n.1506C>T
ENST00000299427.10:c.486C>T	ENSP00000299427.6:p.Ala162=
ENST00000428886.6:n.508C>T
ENST00000436873.6:c.450+36C>T	ENSP00000398136.2:n.450+36C>T
ENST00000524788.1:n.39C>T
ENST00000528571.5:c.*226C>T	ENSP00000434647.1:n.*226C>T
ENST00000533371.5:c.-244C>T	ENSP00000437066.1:n.-244C>T
ENST00000534644.5:n.471C>T
ENST00000611494.4:c.486C>T	ENSP00000484546.1:p.Ala162=
NM_000391.3:c.486C>T	NP_000382.3:p.Ala162=
NM_000391.4:c.486C>T MANE Select	NP_000382.3:p.Ala162=