Canonical Allele Identifier: CA379473659

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637243C>G (hg19) ; chr11:g.6616012C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616012C>G , CM000673.2:g.6616012C>G	GRCh38
NC_000011.9:g.6637243C>G , CM000673.1:g.6637243C>G	GRCh37
NC_000011.8:g.6593819C>G	NCBI36
NG_008653.1:g.8450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1024G>C	ENSP00000507321.1:p.Ala342Pro
ENST00000299427.12:c.1138G>C MANE Select	ENSP00000299427.6:p.Ala380Pro
ENST00000436873.7:c.375G>C
ENST00000524924.2:n.258G>C
ENST00000533371.6:c.409G>C	ENSP00000437066.1:p.Ala137Pro
ENST00000642892.1:c.409G>C	ENSP00000494165.1:p.Ala137Pro
ENST00000643342.1:c.228G>C
ENST00000643439.1:c.*878G>C	ENSP00000495849.1:n.*878G>C
ENST00000643479.1:n.1324G>C
ENST00000643516.1:c.647G>C
ENST00000644218.1:c.949G>C	ENSP00000493574.1:p.Ala317Pro
ENST00000644683.1:c.*591G>C	ENSP00000494085.1:n.*591G>C
ENST00000644810.1:c.859G>C	ENSP00000495895.1:p.Ala287Pro
ENST00000644831.1:n.1314G>C
ENST00000644933.1:c.409G>C	ENSP00000496133.1:p.Ala137Pro
ENST00000645285.1:c.220G>C	ENSP00000495058.1:p.Ala74Pro
ENST00000645331.1:n.1901G>C
ENST00000645620.1:c.409G>C	ENSP00000493657.1:p.Ala137Pro
ENST00000646691.1:n.471G>C
ENST00000646777.1:n.1471G>C
ENST00000647016.1:n.1618G>C
ENST00000647152.1:c.409G>C	ENSP00000495893.1:p.Ala137Pro
ENST00000647209.1:c.*1007G>C	ENSP00000495558.1:n.*1007G>C
ENST00000647346.1:n.2158G>C
ENST00000299427.10:c.1138G>C	ENSP00000299427.6:p.Ala380Pro
ENST00000524924.1:n.93G>C
ENST00000533371.5:c.409G>C	ENSP00000437066.1:p.Ala137Pro
ENST00000611494.4:c.1138G>C	ENSP00000484546.1:p.Ala380Pro
NM_000391.3:c.1138G>C	NP_000382.3:p.Ala380Pro
NM_000391.4:c.1138G>C MANE Select	NP_000382.3:p.Ala380Pro