Canonical Allele Identifier: CA379474115

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637586C>A (hg19) ; chr11:g.6616355C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616355C>A , CM000673.2:g.6616355C>A	GRCh38
NC_000011.9:g.6637586C>A , CM000673.1:g.6637586C>A	GRCh37
NC_000011.8:g.6594162C>A	NCBI36
NG_008653.1:g.8107G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.921G>T	ENSP00000507321.1:p.Met307Ile
ENST00000299427.12:c.1035G>T MANE Select	ENSP00000299427.6:p.Met345Ile
ENST00000436873.7:c.313-281G>T
ENST00000533371.6:c.306G>T	ENSP00000437066.1:p.Met102Ile
ENST00000642892.1:c.306G>T	ENSP00000494165.1:p.Met102Ile
ENST00000643342.1:c.125G>T
ENST00000643439.1:c.*775G>T	ENSP00000495849.1:n.*775G>T
ENST00000643479.1:n.1221G>T
ENST00000643516.1:c.544G>T
ENST00000644218.1:c.887-281G>T	ENSP00000493574.1:n.887-281G>T
ENST00000644683.1:c.*488G>T	ENSP00000494085.1:n.*488G>T
ENST00000644810.1:c.756G>T	ENSP00000495895.1:p.Met252Ile
ENST00000644831.1:n.1211G>T
ENST00000644933.1:c.306G>T	ENSP00000496133.1:p.Met102Ile
ENST00000645285.1:c.158-281G>T	ENSP00000495058.1:n.158-281G>T
ENST00000645331.1:n.1558G>T
ENST00000645620.1:c.306G>T	ENSP00000493657.1:p.Met102Ile
ENST00000646691.1:n.128G>T
ENST00000646777.1:n.1368G>T
ENST00000647016.1:n.1515G>T
ENST00000647152.1:c.306G>T	ENSP00000495893.1:p.Met102Ile
ENST00000647209.1:c.*904G>T	ENSP00000495558.1:n.*904G>T
ENST00000647346.1:n.2055G>T
ENST00000299427.10:c.1035G>T	ENSP00000299427.6:p.Met345Ile
ENST00000533371.5:c.306G>T	ENSP00000437066.1:p.Met102Ile
ENST00000611494.4:c.1035G>T	ENSP00000484546.1:p.Met345Ile
NM_000391.3:c.1035G>T	NP_000382.3:p.Met345Ile
NM_000391.4:c.1035G>T MANE Select	NP_000382.3:p.Met345Ile