Canonical Allele Identifier: CA379475173

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638042G>C (hg19) ; chr11:g.6616811G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616811G>C , CM000673.2:g.6616811G>C	GRCh38
NC_000011.9:g.6638042G>C , CM000673.1:g.6638042G>C	GRCh37
NC_000011.8:g.6594618G>C	NCBI36
NG_008653.1:g.7651C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.622C>G	ENSP00000507321.1:p.Leu208Val
ENST00000299427.12:c.736C>G MANE Select	ENSP00000299427.6:p.Leu246Val
ENST00000436873.7:c.312+490C>G
ENST00000524788.2:n.1895C>G
ENST00000524903.2:n.2011C>G
ENST00000528807.2:n.392C>G
ENST00000530040.2:n.480-308C>G
ENST00000533371.6:c.7C>G	ENSP00000437066.1:p.Leu3Val
ENST00000642892.1:c.7C>G	ENSP00000494165.1:p.Leu3Val
ENST00000643439.1:c.*476C>G	ENSP00000495849.1:n.*476C>G
ENST00000643479.1:n.765C>G
ENST00000643516.1:c.396-308C>G
ENST00000644151.1:n.2175C>G
ENST00000644218.1:c.736C>G	ENSP00000493574.1:p.Leu246Val
ENST00000644683.1:c.*189C>G	ENSP00000494085.1:n.*189C>G
ENST00000644810.1:c.457C>G	ENSP00000495895.1:p.Leu153Val
ENST00000644831.1:n.912C>G
ENST00000644933.1:c.7C>G	ENSP00000496133.1:p.Leu3Val
ENST00000645020.1:n.2026C>G
ENST00000645285.1:c.7C>G	ENSP00000495058.1:p.Leu3Val
ENST00000645331.1:n.1102C>G
ENST00000645620.1:c.7C>G	ENSP00000493657.1:p.Leu3Val
ENST00000646777.1:n.912C>G
ENST00000647016.1:n.1216C>G
ENST00000647152.1:c.7C>G	ENSP00000495893.1:p.Leu3Val
ENST00000647209.1:c.*605C>G	ENSP00000495558.1:n.*605C>G
ENST00000647346.1:n.1756C>G
ENST00000299427.10:c.736C>G	ENSP00000299427.6:p.Leu246Val
ENST00000436873.6:c.451-308C>G	ENSP00000398136.2:n.451-308C>G
ENST00000524788.1:n.436C>G
ENST00000528807.1:n.286C>G
ENST00000533371.5:c.7C>G	ENSP00000437066.1:p.Leu3Val
ENST00000611494.4:c.736C>G	ENSP00000484546.1:p.Leu246Val
NM_000391.3:c.736C>G	NP_000382.3:p.Leu246Val
NM_000391.4:c.736C>G MANE Select	NP_000382.3:p.Leu246Val