Canonical Allele Identifier: CA379475328

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638218T>G (hg19) ; chr11:g.6616987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616987T>G , CM000673.2:g.6616987T>G	GRCh38
NC_000011.9:g.6638218T>G , CM000673.1:g.6638218T>G	GRCh37
NC_000011.8:g.6594794T>G	NCBI36
NG_008653.1:g.7475A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.561A>C	ENSP00000507321.1:p.Gln187His
ENST00000299427.12:c.675A>C MANE Select	ENSP00000299427.6:p.Gln225His
ENST00000436873.7:c.312+314A>C
ENST00000524788.2:n.1834A>C
ENST00000524903.2:n.1950A>C
ENST00000528807.2:n.331A>C
ENST00000530040.2:n.479+372A>C
ENST00000533371.6:c.-55A>C	ENSP00000437066.1:n.-55A>C
ENST00000534644.6:n.623A>C
ENST00000642892.1:c.-55A>C	ENSP00000494165.1:n.-55A>C
ENST00000643439.1:c.*415A>C	ENSP00000495849.1:n.*415A>C
ENST00000643479.1:n.704A>C
ENST00000643516.1:c.395+314A>C
ENST00000644151.1:n.2114A>C
ENST00000644218.1:c.675A>C	ENSP00000493574.1:p.Gln225His
ENST00000644683.1:c.*128A>C	ENSP00000494085.1:n.*128A>C
ENST00000644810.1:c.396A>C	ENSP00000495895.1:p.Gln132His
ENST00000644831.1:n.851A>C
ENST00000644933.1:c.-55A>C	ENSP00000496133.1:n.-55A>C
ENST00000645020.1:n.1850A>C
ENST00000645285.1:c.-55A>C	ENSP00000495058.1:n.-55A>C
ENST00000645331.1:n.1041A>C
ENST00000645620.1:c.-55A>C	ENSP00000493657.1:n.-55A>C
ENST00000646777.1:n.851A>C
ENST00000647016.1:n.1155A>C
ENST00000647152.1:c.-55A>C	ENSP00000495893.1:n.-55A>C
ENST00000647209.1:c.*544A>C	ENSP00000495558.1:n.*544A>C
ENST00000647346.1:n.1695A>C
ENST00000299427.10:c.675A>C	ENSP00000299427.6:p.Gln225His
ENST00000436873.6:c.450+372A>C	ENSP00000398136.2:n.450+372A>C
ENST00000524788.1:n.375A>C
ENST00000528571.5:c.*415A>C	ENSP00000434647.1:n.*415A>C
ENST00000528807.1:n.225A>C
ENST00000533371.5:c.-55A>C	ENSP00000437066.1:n.-55A>C
ENST00000611494.4:c.675A>C	ENSP00000484546.1:p.Gln225His
NM_000391.3:c.675A>C	NP_000382.3:p.Gln225His
NM_000391.4:c.675A>C MANE Select	NP_000382.3:p.Gln225His