Canonical Allele Identifier: CA1950236844

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1078770
• ClinVar RCV Id: RCV001393804
• dbSNP Id: rs1855588179

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616509T>G , CM000673.2:g.6616509T>G	GRCh38
NC_000011.9:g.6637740T>G , CM000673.1:g.6637740T>G	GRCh37
NC_000011.8:g.6594316T>G	NCBI36
NG_008653.1:g.7953A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.773-6A>C	ENSP00000507321.1:n.773-6A>C
ENST00000299427.12:c.887-6A>C MANE Select	ENSP00000299427.6:n.887-6A>C
ENST00000436873.7:c.313-435A>C
ENST00000530040.2:n.480-6A>C
ENST00000533371.6:c.158-6A>C	ENSP00000437066.1:n.158-6A>C
ENST00000642892.1:c.158-6A>C	ENSP00000494165.1:n.158-6A>C
ENST00000643439.1:c.*627-6A>C	ENSP00000495849.1:n.*627-6A>C
ENST00000643479.1:n.1067A>C
ENST00000643516.1:c.396-6A>C
ENST00000644218.1:c.886+152A>C	ENSP00000493574.1:n.886+152A>C
ENST00000644683.1:c.*340-6A>C	ENSP00000494085.1:n.*340-6A>C
ENST00000644810.1:c.608-6A>C	ENSP00000495895.1:n.608-6A>C
ENST00000644831.1:n.1063-6A>C
ENST00000644933.1:c.158-6A>C	ENSP00000496133.1:n.158-6A>C
ENST00000645285.1:c.157+152A>C	ENSP00000495058.1:n.157+152A>C
ENST00000645331.1:n.1404A>C
ENST00000645620.1:c.158-6A>C	ENSP00000493657.1:n.158-6A>C
ENST00000646777.1:n.1214A>C
ENST00000647016.1:n.1367-6A>C
ENST00000647152.1:c.158-6A>C	ENSP00000495893.1:n.158-6A>C
ENST00000647209.1:c.*756-6A>C	ENSP00000495558.1:n.*756-6A>C
ENST00000647346.1:n.1907-6A>C
ENST00000299427.10:c.887-6A>C	ENSP00000299427.6:n.887-6A>C
ENST00000436873.6:c.451-6A>C	ENSP00000398136.2:n.451-6A>C
ENST00000533371.5:c.158-6A>C	ENSP00000437066.1:n.158-6A>C
ENST00000611494.4:c.887-6A>C	ENSP00000484546.1:n.887-6A>C
NM_000391.3:c.887-6A>C	NP_000382.3:n.887-6A>C
NM_000391.4:c.887-6A>C MANE Select	NP_000382.3:n.887-6A>C