Canonical Allele Identifier: CA379472898

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636695A>G (hg19) ; chr11:g.6615464A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615464A>G , CM000673.2:g.6615464A>G	GRCh38
NC_000011.9:g.6636695A>G , CM000673.1:g.6636695A>G	GRCh37
NC_000011.8:g.6593271A>G	NCBI36
NG_008653.1:g.8998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1130T>C	ENSP00000507321.1:p.Val377Ala
ENST00000299427.12:c.1244T>C MANE Select	ENSP00000299427.6:p.Val415Ala
ENST00000436873.7:c.481T>C
ENST00000524924.2:n.364T>C
ENST00000533371.6:c.515T>C	ENSP00000437066.1:p.Val172Ala
ENST00000642892.1:c.515T>C	ENSP00000494165.1:p.Val172Ala
ENST00000643342.1:c.317T>C
ENST00000643439.1:c.*984T>C	ENSP00000495849.1:n.*984T>C
ENST00000643479.1:n.1430T>C
ENST00000643516.1:c.753T>C
ENST00000644218.1:c.1055T>C	ENSP00000493574.1:p.Val352Ala
ENST00000644683.1:c.*697T>C	ENSP00000494085.1:n.*697T>C
ENST00000644810.1:c.965T>C	ENSP00000495895.1:p.Val322Ala
ENST00000644831.1:n.1420T>C
ENST00000644933.1:c.*110T>C	ENSP00000496133.1:n.*110T>C
ENST00000645285.1:c.*110T>C	ENSP00000495058.1:n.*110T>C
ENST00000645331.1:n.2449T>C
ENST00000645620.1:c.515T>C	ENSP00000493657.1:p.Val172Ala
ENST00000646691.1:n.1019T>C
ENST00000646777.1:n.1577T>C
ENST00000647016.1:n.1724T>C
ENST00000647152.1:c.515T>C	ENSP00000495893.1:p.Val172Ala
ENST00000647209.1:c.*1113T>C	ENSP00000495558.1:n.*1113T>C
ENST00000647346.1:n.2264T>C
ENST00000299427.10:c.1244T>C	ENSP00000299427.6:p.Val415Ala
ENST00000524611.1:n.10T>C
ENST00000524924.1:n.199T>C
ENST00000532191.1:n.297T>C
ENST00000533371.5:c.515T>C	ENSP00000437066.1:p.Val172Ala
ENST00000611494.4:c.1244T>C	ENSP00000484546.1:p.Val415Ala
NM_000391.3:c.1244T>C	NP_000382.3:p.Val415Ala
NM_000391.4:c.1244T>C MANE Select	NP_000382.3:p.Val415Ala