Canonical Allele Identifier: CA379473672

Gene: TPP1

Linked Data

• ClinVar Variation Id: 527734
• ClinVar RCV Id: RCV001338190
• dbSNP Id: rs1554901719
• MyVariant Identifiers: chr11:g.6637247G>C (hg19) ; chr11:g.6616016G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616016G>C , CM000673.2:g.6616016G>C	GRCh38
NC_000011.9:g.6637247G>C , CM000673.1:g.6637247G>C	GRCh37
NC_000011.8:g.6593823G>C	NCBI36
NG_008653.1:g.8446C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1020C>G	ENSP00000507321.1:p.Phe340Leu
ENST00000299427.12:c.1134C>G MANE Select	ENSP00000299427.6:p.Phe378Leu
ENST00000436873.7:c.371C>G
ENST00000524924.2:n.254C>G
ENST00000533371.6:c.405C>G	ENSP00000437066.1:p.Phe135Leu
ENST00000642892.1:c.405C>G	ENSP00000494165.1:p.Phe135Leu
ENST00000643342.1:c.224C>G
ENST00000643439.1:c.*874C>G	ENSP00000495849.1:n.*874C>G
ENST00000643479.1:n.1320C>G
ENST00000643516.1:c.643C>G
ENST00000644218.1:c.945C>G	ENSP00000493574.1:p.Phe315Leu
ENST00000644683.1:c.*587C>G	ENSP00000494085.1:n.*587C>G
ENST00000644810.1:c.855C>G	ENSP00000495895.1:p.Phe285Leu
ENST00000644831.1:n.1310C>G
ENST00000644933.1:c.405C>G	ENSP00000496133.1:p.Phe135Leu
ENST00000645285.1:c.216C>G	ENSP00000495058.1:p.Phe72Leu
ENST00000645331.1:n.1897C>G
ENST00000645620.1:c.405C>G	ENSP00000493657.1:p.Phe135Leu
ENST00000646691.1:n.467C>G
ENST00000646777.1:n.1467C>G
ENST00000647016.1:n.1614C>G
ENST00000647152.1:c.405C>G	ENSP00000495893.1:p.Phe135Leu
ENST00000647209.1:c.*1003C>G	ENSP00000495558.1:n.*1003C>G
ENST00000647346.1:n.2154C>G
ENST00000299427.10:c.1134C>G	ENSP00000299427.6:p.Phe378Leu
ENST00000524924.1:n.89C>G
ENST00000533371.5:c.405C>G	ENSP00000437066.1:p.Phe135Leu
ENST00000611494.4:c.1134C>G	ENSP00000484546.1:p.Phe378Leu
NM_000391.3:c.1134C>G	NP_000382.3:p.Phe378Leu
NM_000391.4:c.1134C>G MANE Select	NP_000382.3:p.Phe378Leu