Canonical Allele Identifier: CA472922684

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2766726
• ClinVar RCV Id: RCV003580414
• MyVariant Identifiers: chr11:g.6637941G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616710G>A , CM000673.2:g.6616710G>A	GRCh38
NC_000011.9:g.6637941G>A , CM000673.1:g.6637941G>A	GRCh37
NC_000011.8:g.6594517G>A	NCBI36
NG_008653.1:g.7752C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.723C>T	ENSP00000507321.1:p.Tyr241=
ENST00000299427.12:c.837C>T MANE Select	ENSP00000299427.6:p.Tyr279=
ENST00000436873.7:c.312+591C>T
ENST00000524788.2:n.1996C>T
ENST00000524903.2:n.2112C>T
ENST00000528807.2:n.493C>T
ENST00000530040.2:n.480-207C>T
ENST00000533371.6:c.108C>T	ENSP00000437066.1:p.Tyr36=
ENST00000642892.1:c.108C>T	ENSP00000494165.1:p.Tyr36=
ENST00000643439.1:c.*577C>T	ENSP00000495849.1:n.*577C>T
ENST00000643479.1:n.866C>T
ENST00000643516.1:c.396-207C>T
ENST00000644151.1:n.2276C>T
ENST00000644218.1:c.837C>T	ENSP00000493574.1:p.Tyr279=
ENST00000644683.1:c.*290C>T	ENSP00000494085.1:n.*290C>T
ENST00000644810.1:c.558C>T	ENSP00000495895.1:p.Tyr186=
ENST00000644831.1:n.1013C>T
ENST00000644933.1:c.108C>T	ENSP00000496133.1:p.Tyr36=
ENST00000645020.1:n.2127C>T
ENST00000645285.1:c.108C>T	ENSP00000495058.1:p.Tyr36=
ENST00000645331.1:n.1203C>T
ENST00000645620.1:c.108C>T	ENSP00000493657.1:p.Tyr36=
ENST00000646777.1:n.1013C>T
ENST00000647016.1:n.1317C>T
ENST00000647152.1:c.108C>T	ENSP00000495893.1:p.Tyr36=
ENST00000647209.1:c.*706C>T	ENSP00000495558.1:n.*706C>T
ENST00000647346.1:n.1857C>T
ENST00000299427.10:c.837C>T	ENSP00000299427.6:p.Tyr279=
ENST00000436873.6:c.451-207C>T	ENSP00000398136.2:n.451-207C>T
ENST00000524788.1:n.537C>T
ENST00000528807.1:n.387C>T
ENST00000533371.5:c.108C>T	ENSP00000437066.1:p.Tyr36=
ENST00000611494.4:c.837C>T	ENSP00000484546.1:p.Tyr279=
NM_000391.3:c.837C>T	NP_000382.3:p.Tyr279=
NM_000391.4:c.837C>T MANE Select	NP_000382.3:p.Tyr279=