Canonical Allele Identifier: CA379472063

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635842C>G (hg19) ; chr11:g.6614611C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614611C>G , CM000673.2:g.6614611C>G	GRCh38
NC_000011.9:g.6635842C>G , CM000673.1:g.6635842C>G	GRCh37
NC_000011.8:g.6592418C>G	NCBI36
NG_008653.1:g.9851G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1513G>C	ENSP00000507321.1:p.Asp505His
ENST00000299427.12:c.1627G>C MANE Select	ENSP00000299427.6:p.Asp543His
ENST00000524611.2:n.666G>C
ENST00000524924.2:n.747G>C
ENST00000533371.6:c.898G>C	ENSP00000437066.1:p.Asp300His
ENST00000642892.1:c.898G>C	ENSP00000494165.1:p.Asp300His
ENST00000643342.1:c.700G>C
ENST00000643439.1:c.*1367G>C	ENSP00000495849.1:n.*1367G>C
ENST00000643479.1:n.1813G>C
ENST00000643516.1:c.1136G>C
ENST00000644218.1:c.1438G>C	ENSP00000493574.1:p.Asp480His
ENST00000644683.1:c.*1080G>C	ENSP00000494085.1:n.*1080G>C
ENST00000644810.1:c.1348G>C	ENSP00000495895.1:p.Asp450His
ENST00000644831.1:n.1803G>C
ENST00000644933.1:c.*493G>C	ENSP00000496133.1:n.*493G>C
ENST00000645285.1:c.*493G>C	ENSP00000495058.1:n.*493G>C
ENST00000645331.1:n.2832G>C
ENST00000645620.1:c.898G>C	ENSP00000493657.1:p.Asp300His
ENST00000646691.1:n.1514G>C
ENST00000646777.1:n.1960G>C
ENST00000647016.1:n.2107G>C
ENST00000647152.1:c.898G>C	ENSP00000495893.1:p.Asp300His
ENST00000647209.1:c.*1496G>C	ENSP00000495558.1:n.*1496G>C
ENST00000647346.1:n.2647G>C
ENST00000299427.10:c.1627G>C	ENSP00000299427.6:p.Asp543His
ENST00000533371.5:c.898G>C	ENSP00000437066.1:p.Asp300His
ENST00000611494.4:c.1627G>C	ENSP00000484546.1:p.Asp543His
NM_000391.3:c.1627G>C	NP_000382.3:p.Asp543His
NM_000391.4:c.1627G>C MANE Select	NP_000382.3:p.Asp543His