Canonical Allele Identifier: CA379475135

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638025A>C (hg19) ; chr11:g.6616794A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616794A>C , CM000673.2:g.6616794A>C	GRCh38
NC_000011.9:g.6638025A>C , CM000673.1:g.6638025A>C	GRCh37
NC_000011.8:g.6594601A>C	NCBI36
NG_008653.1:g.7668T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.639T>G	ENSP00000507321.1:p.Phe213Leu
ENST00000299427.12:c.753T>G MANE Select	ENSP00000299427.6:p.Phe251Leu
ENST00000436873.7:c.312+507T>G
ENST00000524788.2:n.1912T>G
ENST00000524903.2:n.2028T>G
ENST00000528807.2:n.409T>G
ENST00000530040.2:n.480-291T>G
ENST00000533371.6:c.24T>G	ENSP00000437066.1:p.Phe8Leu
ENST00000642892.1:c.24T>G	ENSP00000494165.1:p.Phe8Leu
ENST00000643439.1:c.*493T>G	ENSP00000495849.1:n.*493T>G
ENST00000643479.1:n.782T>G
ENST00000643516.1:c.396-291T>G
ENST00000644151.1:n.2192T>G
ENST00000644218.1:c.753T>G	ENSP00000493574.1:p.Phe251Leu
ENST00000644683.1:c.*206T>G	ENSP00000494085.1:n.*206T>G
ENST00000644810.1:c.474T>G	ENSP00000495895.1:p.Phe158Leu
ENST00000644831.1:n.929T>G
ENST00000644933.1:c.24T>G	ENSP00000496133.1:p.Phe8Leu
ENST00000645020.1:n.2043T>G
ENST00000645285.1:c.24T>G	ENSP00000495058.1:p.Phe8Leu
ENST00000645331.1:n.1119T>G
ENST00000645620.1:c.24T>G	ENSP00000493657.1:p.Phe8Leu
ENST00000646777.1:n.929T>G
ENST00000647016.1:n.1233T>G
ENST00000647152.1:c.24T>G	ENSP00000495893.1:p.Phe8Leu
ENST00000647209.1:c.*622T>G	ENSP00000495558.1:n.*622T>G
ENST00000647346.1:n.1773T>G
ENST00000299427.10:c.753T>G	ENSP00000299427.6:p.Phe251Leu
ENST00000436873.6:c.451-291T>G	ENSP00000398136.2:n.451-291T>G
ENST00000524788.1:n.453T>G
ENST00000528807.1:n.303T>G
ENST00000533371.5:c.24T>G	ENSP00000437066.1:p.Phe8Leu
ENST00000611494.4:c.753T>G	ENSP00000484546.1:p.Phe251Leu
NM_000391.3:c.753T>G	NP_000382.3:p.Phe251Leu
NM_000391.4:c.753T>G MANE Select	NP_000382.3:p.Phe251Leu