Canonical Allele Identifier: CA379474934

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637925C>G (hg19) ; chr11:g.6616694C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616694C>G , CM000673.2:g.6616694C>G	GRCh38
NC_000011.9:g.6637925C>G , CM000673.1:g.6637925C>G	GRCh37
NC_000011.8:g.6594501C>G	NCBI36
NG_008653.1:g.7768G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.739G>C	ENSP00000507321.1:p.Ala247Pro
ENST00000299427.12:c.853G>C MANE Select	ENSP00000299427.6:p.Ala285Pro
ENST00000436873.7:c.312+607G>C
ENST00000524788.2:n.2012G>C
ENST00000524903.2:n.2128G>C
ENST00000528807.2:n.509G>C
ENST00000530040.2:n.480-191G>C
ENST00000533371.6:c.124G>C	ENSP00000437066.1:p.Ala42Pro
ENST00000642892.1:c.124G>C	ENSP00000494165.1:p.Ala42Pro
ENST00000643439.1:c.*593G>C	ENSP00000495849.1:n.*593G>C
ENST00000643479.1:n.882G>C
ENST00000643516.1:c.396-191G>C
ENST00000644151.1:n.2292G>C
ENST00000644218.1:c.853G>C	ENSP00000493574.1:p.Ala285Pro
ENST00000644683.1:c.*306G>C	ENSP00000494085.1:n.*306G>C
ENST00000644810.1:c.574G>C	ENSP00000495895.1:p.Ala192Pro
ENST00000644831.1:n.1029G>C
ENST00000644933.1:c.124G>C	ENSP00000496133.1:p.Ala42Pro
ENST00000645020.1:n.2143G>C
ENST00000645285.1:c.124G>C	ENSP00000495058.1:p.Ala42Pro
ENST00000645331.1:n.1219G>C
ENST00000645620.1:c.124G>C	ENSP00000493657.1:p.Ala42Pro
ENST00000646777.1:n.1029G>C
ENST00000647016.1:n.1333G>C
ENST00000647152.1:c.124G>C	ENSP00000495893.1:p.Ala42Pro
ENST00000647209.1:c.*722G>C	ENSP00000495558.1:n.*722G>C
ENST00000647346.1:n.1873G>C
ENST00000299427.10:c.853G>C	ENSP00000299427.6:p.Ala285Pro
ENST00000436873.6:c.451-191G>C	ENSP00000398136.2:n.451-191G>C
ENST00000524788.1:n.553G>C
ENST00000528807.1:n.403G>C
ENST00000533371.5:c.124G>C	ENSP00000437066.1:p.Ala42Pro
ENST00000611494.4:c.853G>C	ENSP00000484546.1:p.Ala285Pro
NM_000391.3:c.853G>C	NP_000382.3:p.Ala285Pro
NM_000391.4:c.853G>C MANE Select	NP_000382.3:p.Ala285Pro