Canonical Allele Identifier: CA379474039

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637557A>G (hg19) ; chr11:g.6616326A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616326A>G , CM000673.2:g.6616326A>G	GRCh38
NC_000011.9:g.6637557A>G , CM000673.1:g.6637557A>G	GRCh37
NC_000011.8:g.6594133A>G	NCBI36
NG_008653.1:g.8136T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.950T>C	ENSP00000507321.1:p.Leu317Pro
ENST00000299427.12:c.1064T>C MANE Select	ENSP00000299427.6:p.Leu355Pro
ENST00000436873.7:c.313-252T>C
ENST00000533371.6:c.335T>C	ENSP00000437066.1:p.Leu112Pro
ENST00000642892.1:c.335T>C	ENSP00000494165.1:p.Leu112Pro
ENST00000643342.1:c.154T>C
ENST00000643439.1:c.*804T>C	ENSP00000495849.1:n.*804T>C
ENST00000643479.1:n.1250T>C
ENST00000643516.1:c.573T>C
ENST00000644218.1:c.887-252T>C	ENSP00000493574.1:n.887-252T>C
ENST00000644683.1:c.*517T>C	ENSP00000494085.1:n.*517T>C
ENST00000644810.1:c.785T>C	ENSP00000495895.1:p.Leu262Pro
ENST00000644831.1:n.1240T>C
ENST00000644933.1:c.335T>C	ENSP00000496133.1:p.Leu112Pro
ENST00000645285.1:c.158-252T>C	ENSP00000495058.1:n.158-252T>C
ENST00000645331.1:n.1587T>C
ENST00000645620.1:c.335T>C	ENSP00000493657.1:p.Leu112Pro
ENST00000646691.1:n.157T>C
ENST00000646777.1:n.1397T>C
ENST00000647016.1:n.1544T>C
ENST00000647152.1:c.335T>C	ENSP00000495893.1:p.Leu112Pro
ENST00000647209.1:c.*933T>C	ENSP00000495558.1:n.*933T>C
ENST00000647346.1:n.2084T>C
ENST00000299427.10:c.1064T>C	ENSP00000299427.6:p.Leu355Pro
ENST00000533371.5:c.335T>C	ENSP00000437066.1:p.Leu112Pro
ENST00000611494.4:c.1064T>C	ENSP00000484546.1:p.Leu355Pro
NM_000391.3:c.1064T>C	NP_000382.3:p.Leu355Pro
NM_000391.4:c.1064T>C MANE Select	NP_000382.3:p.Leu355Pro