Canonical Allele Identifier: CA472772861

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637244A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616013A>G , CM000673.2:g.6616013A>G	GRCh38
NC_000011.9:g.6637244A>G , CM000673.1:g.6637244A>G	GRCh37
NC_000011.8:g.6593820A>G	NCBI36
NG_008653.1:g.8449T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1023T>C	ENSP00000507321.1:p.Pro341=
ENST00000299427.12:c.1137T>C MANE Select	ENSP00000299427.6:p.Pro379=
ENST00000436873.7:c.374T>C
ENST00000524924.2:n.257T>C
ENST00000533371.6:c.408T>C	ENSP00000437066.1:p.Pro136=
ENST00000642892.1:c.408T>C	ENSP00000494165.1:p.Pro136=
ENST00000643342.1:c.227T>C
ENST00000643439.1:c.*877T>C	ENSP00000495849.1:n.*877T>C
ENST00000643479.1:n.1323T>C
ENST00000643516.1:c.646T>C
ENST00000644218.1:c.948T>C	ENSP00000493574.1:p.Pro316=
ENST00000644683.1:c.*590T>C	ENSP00000494085.1:n.*590T>C
ENST00000644810.1:c.858T>C	ENSP00000495895.1:p.Pro286=
ENST00000644831.1:n.1313T>C
ENST00000644933.1:c.408T>C	ENSP00000496133.1:p.Pro136=
ENST00000645285.1:c.219T>C	ENSP00000495058.1:p.Pro73=
ENST00000645331.1:n.1900T>C
ENST00000645620.1:c.408T>C	ENSP00000493657.1:p.Pro136=
ENST00000646691.1:n.470T>C
ENST00000646777.1:n.1470T>C
ENST00000647016.1:n.1617T>C
ENST00000647152.1:c.408T>C	ENSP00000495893.1:p.Pro136=
ENST00000647209.1:c.*1006T>C	ENSP00000495558.1:n.*1006T>C
ENST00000647346.1:n.2157T>C
ENST00000299427.10:c.1137T>C	ENSP00000299427.6:p.Pro379=
ENST00000524924.1:n.92T>C
ENST00000533371.5:c.408T>C	ENSP00000437066.1:p.Pro136=
ENST00000611494.4:c.1137T>C	ENSP00000484546.1:p.Pro379=
NM_000391.3:c.1137T>C	NP_000382.3:p.Pro379=
NM_000391.4:c.1137T>C MANE Select	NP_000382.3:p.Pro379=