Canonical Allele Identifier: CA379474943

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616697-C-G
• MyVariant Identifiers: chr11:g.6637928C>G (hg19) ; chr11:g.6616697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616697C>G , CM000673.2:g.6616697C>G	GRCh38
NC_000011.9:g.6637928C>G , CM000673.1:g.6637928C>G	GRCh37
NC_000011.8:g.6594504C>G	NCBI36
NG_008653.1:g.7765G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.736G>C	ENSP00000507321.1:p.Gly246Arg
ENST00000299427.12:c.850G>C MANE Select	ENSP00000299427.6:p.Gly284Arg
ENST00000436873.7:c.312+604G>C
ENST00000524788.2:n.2009G>C
ENST00000524903.2:n.2125G>C
ENST00000528807.2:n.506G>C
ENST00000530040.2:n.480-194G>C
ENST00000533371.6:c.121G>C	ENSP00000437066.1:p.Gly41Arg
ENST00000642892.1:c.121G>C	ENSP00000494165.1:p.Gly41Arg
ENST00000643439.1:c.*590G>C	ENSP00000495849.1:n.*590G>C
ENST00000643479.1:n.879G>C
ENST00000643516.1:c.396-194G>C
ENST00000644151.1:n.2289G>C
ENST00000644218.1:c.850G>C	ENSP00000493574.1:p.Gly284Arg
ENST00000644683.1:c.*303G>C	ENSP00000494085.1:n.*303G>C
ENST00000644810.1:c.571G>C	ENSP00000495895.1:p.Gly191Arg
ENST00000644831.1:n.1026G>C
ENST00000644933.1:c.121G>C	ENSP00000496133.1:p.Gly41Arg
ENST00000645020.1:n.2140G>C
ENST00000645285.1:c.121G>C	ENSP00000495058.1:p.Gly41Arg
ENST00000645331.1:n.1216G>C
ENST00000645620.1:c.121G>C	ENSP00000493657.1:p.Gly41Arg
ENST00000646777.1:n.1026G>C
ENST00000647016.1:n.1330G>C
ENST00000647152.1:c.121G>C	ENSP00000495893.1:p.Gly41Arg
ENST00000647209.1:c.*719G>C	ENSP00000495558.1:n.*719G>C
ENST00000647346.1:n.1870G>C
ENST00000299427.10:c.850G>C	ENSP00000299427.6:p.Gly284Arg
ENST00000436873.6:c.451-194G>C	ENSP00000398136.2:n.451-194G>C
ENST00000524788.1:n.550G>C
ENST00000528807.1:n.400G>C
ENST00000533371.5:c.121G>C	ENSP00000437066.1:p.Gly41Arg
ENST00000611494.4:c.850G>C	ENSP00000484546.1:p.Gly284Arg
NM_000391.3:c.850G>C	NP_000382.3:p.Gly284Arg
NM_000391.4:c.850G>C MANE Select	NP_000382.3:p.Gly284Arg