Canonical Allele Identifier: CA379475624

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638366A>G (hg19) ; chr11:g.6617135A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617135A>G , CM000673.2:g.6617135A>G	GRCh38
NC_000011.9:g.6638366A>G , CM000673.1:g.6638366A>G	GRCh37
NC_000011.8:g.6594942A>G	NCBI36
NG_008653.1:g.7327T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.413T>C	ENSP00000507321.1:p.Phe138Ser
ENST00000299427.12:c.527T>C MANE Select	ENSP00000299427.6:p.Phe176Ser
ENST00000428886.7:n.762T>C
ENST00000436873.7:c.312+166T>C
ENST00000524788.2:n.1686T>C
ENST00000524903.2:n.1802T>C
ENST00000528807.2:n.183T>C
ENST00000530040.2:n.479+224T>C
ENST00000533371.6:c.-203T>C	ENSP00000437066.1:n.-203T>C
ENST00000534644.6:n.475T>C
ENST00000642892.1:c.-203T>C	ENSP00000494165.1:n.-203T>C
ENST00000643439.1:c.*267T>C	ENSP00000495849.1:n.*267T>C
ENST00000643479.1:n.556T>C
ENST00000643516.1:c.395+166T>C
ENST00000644151.1:n.1966T>C
ENST00000644218.1:c.527T>C	ENSP00000493574.1:p.Phe176Ser
ENST00000644683.1:c.469T>C	ENSP00000494085.1:p.Phe157Leu
ENST00000644810.1:c.248T>C	ENSP00000495895.1:p.Phe83Ser
ENST00000644831.1:n.703T>C
ENST00000644933.1:c.-203T>C	ENSP00000496133.1:n.-203T>C
ENST00000645020.1:n.1702T>C
ENST00000645285.1:c.-203T>C	ENSP00000495058.1:n.-203T>C
ENST00000645331.1:n.893T>C
ENST00000645620.1:c.-203T>C	ENSP00000493657.1:n.-203T>C
ENST00000646777.1:n.703T>C
ENST00000647016.1:n.1007T>C
ENST00000647152.1:c.-203T>C	ENSP00000495893.1:n.-203T>C
ENST00000647209.1:c.*396T>C	ENSP00000495558.1:n.*396T>C
ENST00000647346.1:n.1547T>C
ENST00000299427.10:c.527T>C	ENSP00000299427.6:p.Phe176Ser
ENST00000428886.6:n.696T>C
ENST00000436873.6:c.450+224T>C	ENSP00000398136.2:n.450+224T>C
ENST00000524788.1:n.227T>C
ENST00000528571.5:c.*267T>C	ENSP00000434647.1:n.*267T>C
ENST00000528807.1:n.77T>C
ENST00000533371.5:c.-203T>C	ENSP00000437066.1:n.-203T>C
ENST00000534644.5:n.512T>C
ENST00000611494.4:c.527T>C	ENSP00000484546.1:p.Phe176Ser
NM_000391.3:c.527T>C	NP_000382.3:p.Phe176Ser
NM_000391.4:c.527T>C MANE Select	NP_000382.3:p.Phe176Ser