Canonical Allele Identifier: CA379474556

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637696T>G (hg19) ; chr11:g.6616465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616465T>G , CM000673.2:g.6616465T>G	GRCh38
NC_000011.9:g.6637696T>G , CM000673.1:g.6637696T>G	GRCh37
NC_000011.8:g.6594272T>G	NCBI36
NG_008653.1:g.7997A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.811A>C	ENSP00000507321.1:p.Met271Leu
ENST00000299427.12:c.925A>C MANE Select	ENSP00000299427.6:p.Met309Leu
ENST00000436873.7:c.313-391A>C
ENST00000530040.2:n.518A>C
ENST00000533371.6:c.196A>C	ENSP00000437066.1:p.Met66Leu
ENST00000642892.1:c.196A>C	ENSP00000494165.1:p.Met66Leu
ENST00000643342.1:c.15A>C
ENST00000643439.1:c.*665A>C	ENSP00000495849.1:n.*665A>C
ENST00000643479.1:n.1111A>C
ENST00000643516.1:c.434A>C
ENST00000644218.1:c.886+196A>C	ENSP00000493574.1:n.886+196A>C
ENST00000644683.1:c.*378A>C	ENSP00000494085.1:n.*378A>C
ENST00000644810.1:c.646A>C	ENSP00000495895.1:p.Met216Leu
ENST00000644831.1:n.1101A>C
ENST00000644933.1:c.196A>C	ENSP00000496133.1:p.Met66Leu
ENST00000645285.1:c.157+196A>C	ENSP00000495058.1:n.157+196A>C
ENST00000645331.1:n.1448A>C
ENST00000645620.1:c.196A>C	ENSP00000493657.1:p.Met66Leu
ENST00000646691.1:n.18A>C
ENST00000646777.1:n.1258A>C
ENST00000647016.1:n.1405A>C
ENST00000647152.1:c.196A>C	ENSP00000495893.1:p.Met66Leu
ENST00000647209.1:c.*794A>C	ENSP00000495558.1:n.*794A>C
ENST00000647346.1:n.1945A>C
ENST00000299427.10:c.925A>C	ENSP00000299427.6:p.Met309Leu
ENST00000436873.6:c.489A>C	ENSP00000398136.2:p.Ser163=
ENST00000533371.5:c.196A>C	ENSP00000437066.1:p.Met66Leu
ENST00000611494.4:c.925A>C	ENSP00000484546.1:p.Met309Leu
NM_000391.3:c.925A>C	NP_000382.3:p.Met309Leu
NM_000391.4:c.925A>C MANE Select	NP_000382.3:p.Met309Leu