Canonical Allele Identifier: CA379474002

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637549A>G (hg19) ; chr11:g.6616318A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616318A>G , CM000673.2:g.6616318A>G	GRCh38
NC_000011.9:g.6637549A>G , CM000673.1:g.6637549A>G	GRCh37
NC_000011.8:g.6594125A>G	NCBI36
NG_008653.1:g.8144T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.958T>C	ENSP00000507321.1:p.Ser320Pro
ENST00000299427.12:c.1072T>C MANE Select	ENSP00000299427.6:p.Ser358Pro
ENST00000436873.7:c.313-244T>C
ENST00000533371.6:c.343T>C	ENSP00000437066.1:p.Ser115Pro
ENST00000642892.1:c.343T>C	ENSP00000494165.1:p.Ser115Pro
ENST00000643342.1:c.162T>C
ENST00000643439.1:c.*812T>C	ENSP00000495849.1:n.*812T>C
ENST00000643479.1:n.1258T>C
ENST00000643516.1:c.581T>C
ENST00000644218.1:c.887-244T>C	ENSP00000493574.1:n.887-244T>C
ENST00000644683.1:c.*525T>C	ENSP00000494085.1:n.*525T>C
ENST00000644810.1:c.793T>C	ENSP00000495895.1:p.Ser265Pro
ENST00000644831.1:n.1248T>C
ENST00000644933.1:c.343T>C	ENSP00000496133.1:p.Ser115Pro
ENST00000645285.1:c.158-244T>C	ENSP00000495058.1:n.158-244T>C
ENST00000645331.1:n.1595T>C
ENST00000645620.1:c.343T>C	ENSP00000493657.1:p.Ser115Pro
ENST00000646691.1:n.165T>C
ENST00000646777.1:n.1405T>C
ENST00000647016.1:n.1552T>C
ENST00000647152.1:c.343T>C	ENSP00000495893.1:p.Ser115Pro
ENST00000647209.1:c.*941T>C	ENSP00000495558.1:n.*941T>C
ENST00000647346.1:n.2092T>C
ENST00000299427.10:c.1072T>C	ENSP00000299427.6:p.Ser358Pro
ENST00000533371.5:c.343T>C	ENSP00000437066.1:p.Ser115Pro
ENST00000611494.4:c.1072T>C	ENSP00000484546.1:p.Ser358Pro
NM_000391.3:c.1072T>C	NP_000382.3:p.Ser358Pro
NM_000391.4:c.1072T>C MANE Select	NP_000382.3:p.Ser358Pro