Canonical Allele Identifier: CA379475003

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637955G>C (hg19) ; chr11:g.6616724G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616724G>C , CM000673.2:g.6616724G>C	GRCh38
NC_000011.9:g.6637955G>C , CM000673.1:g.6637955G>C	GRCh37
NC_000011.8:g.6594531G>C	NCBI36
NG_008653.1:g.7738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.709C>G	ENSP00000507321.1:p.Leu237Val
ENST00000299427.12:c.823C>G MANE Select	ENSP00000299427.6:p.Leu275Val
ENST00000436873.7:c.312+577C>G
ENST00000524788.2:n.1982C>G
ENST00000524903.2:n.2098C>G
ENST00000528807.2:n.479C>G
ENST00000530040.2:n.480-221C>G
ENST00000533371.6:c.94C>G	ENSP00000437066.1:p.Leu32Val
ENST00000642892.1:c.94C>G	ENSP00000494165.1:p.Leu32Val
ENST00000643439.1:c.*563C>G	ENSP00000495849.1:n.*563C>G
ENST00000643479.1:n.852C>G
ENST00000643516.1:c.396-221C>G
ENST00000644151.1:n.2262C>G
ENST00000644218.1:c.823C>G	ENSP00000493574.1:p.Leu275Val
ENST00000644683.1:c.*276C>G	ENSP00000494085.1:n.*276C>G
ENST00000644810.1:c.544C>G	ENSP00000495895.1:p.Leu182Val
ENST00000644831.1:n.999C>G
ENST00000644933.1:c.94C>G	ENSP00000496133.1:p.Leu32Val
ENST00000645020.1:n.2113C>G
ENST00000645285.1:c.94C>G	ENSP00000495058.1:p.Leu32Val
ENST00000645331.1:n.1189C>G
ENST00000645620.1:c.94C>G	ENSP00000493657.1:p.Leu32Val
ENST00000646777.1:n.999C>G
ENST00000647016.1:n.1303C>G
ENST00000647152.1:c.94C>G	ENSP00000495893.1:p.Leu32Val
ENST00000647209.1:c.*692C>G	ENSP00000495558.1:n.*692C>G
ENST00000647346.1:n.1843C>G
ENST00000299427.10:c.823C>G	ENSP00000299427.6:p.Leu275Val
ENST00000436873.6:c.451-221C>G	ENSP00000398136.2:n.451-221C>G
ENST00000524788.1:n.523C>G
ENST00000528807.1:n.373C>G
ENST00000533371.5:c.94C>G	ENSP00000437066.1:p.Leu32Val
ENST00000611494.4:c.823C>G	ENSP00000484546.1:p.Leu275Val
NM_000391.3:c.823C>G	NP_000382.3:p.Leu275Val
NM_000391.4:c.823C>G MANE Select	NP_000382.3:p.Leu275Val