Canonical Allele Identifier: CA379474732

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616499-C-T
• MyVariant Identifiers: chr11:g.6637730C>T (hg19) ; chr11:g.6616499C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616499C>T , CM000673.2:g.6616499C>T	GRCh38
NC_000011.9:g.6637730C>T , CM000673.1:g.6637730C>T	GRCh37
NC_000011.8:g.6594306C>T	NCBI36
NG_008653.1:g.7963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.777G>A	ENSP00000507321.1:p.Arg259=
ENST00000299427.12:c.891G>A MANE Select	ENSP00000299427.6:p.Arg297=
ENST00000436873.7:c.313-425G>A
ENST00000530040.2:n.484G>A
ENST00000533371.6:c.162G>A	ENSP00000437066.1:p.Arg54=
ENST00000642892.1:c.162G>A	ENSP00000494165.1:p.Arg54=
ENST00000643439.1:c.*631G>A	ENSP00000495849.1:n.*631G>A
ENST00000643479.1:n.1077G>A
ENST00000643516.1:c.400G>A
ENST00000644218.1:c.886+162G>A	ENSP00000493574.1:n.886+162G>A
ENST00000644683.1:c.*344G>A	ENSP00000494085.1:n.*344G>A
ENST00000644810.1:c.612G>A	ENSP00000495895.1:p.Arg204=
ENST00000644831.1:n.1067G>A
ENST00000644933.1:c.162G>A	ENSP00000496133.1:p.Arg54=
ENST00000645285.1:c.157+162G>A	ENSP00000495058.1:n.157+162G>A
ENST00000645331.1:n.1414G>A
ENST00000645620.1:c.162G>A	ENSP00000493657.1:p.Arg54=
ENST00000646777.1:n.1224G>A
ENST00000647016.1:n.1371G>A
ENST00000647152.1:c.162G>A	ENSP00000495893.1:p.Arg54=
ENST00000647209.1:c.*760G>A	ENSP00000495558.1:n.*760G>A
ENST00000647346.1:n.1911G>A
ENST00000299427.10:c.891G>A	ENSP00000299427.6:p.Arg297=
ENST00000436873.6:c.455G>A	ENSP00000398136.2:p.Gly152Asp
ENST00000533371.5:c.162G>A	ENSP00000437066.1:p.Arg54=
ENST00000611494.4:c.891G>A	ENSP00000484546.1:p.Arg297=
NM_000391.3:c.891G>A	NP_000382.3:p.Arg297=
NM_000391.4:c.891G>A MANE Select	NP_000382.3:p.Arg297=