Canonical Allele Identifier: CA2612258101

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616595-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616595T>G , CM000673.2:g.6616595T>G	GRCh38
NC_000011.9:g.6637826T>G , CM000673.1:g.6637826T>G	GRCh37
NC_000011.8:g.6594402T>G	NCBI36
NG_008653.1:g.7867A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.772+66A>C	ENSP00000507321.1:n.772+66A>C
ENST00000299427.12:c.886+66A>C MANE Select	ENSP00000299427.6:n.886+66A>C
ENST00000436873.7:c.313-521A>C
ENST00000524903.2:n.2227A>C
ENST00000528807.2:n.608A>C
ENST00000530040.2:n.480-92A>C
ENST00000533371.6:c.157+66A>C	ENSP00000437066.1:n.157+66A>C
ENST00000642892.1:c.157+66A>C	ENSP00000494165.1:n.157+66A>C
ENST00000643439.1:c.*626+66A>C	ENSP00000495849.1:n.*626+66A>C
ENST00000643479.1:n.981A>C
ENST00000643516.1:c.396-92A>C
ENST00000644218.1:c.886+66A>C	ENSP00000493574.1:n.886+66A>C
ENST00000644683.1:c.*339+66A>C	ENSP00000494085.1:n.*339+66A>C
ENST00000644810.1:c.607+66A>C	ENSP00000495895.1:n.607+66A>C
ENST00000644831.1:n.1062+66A>C
ENST00000644933.1:c.157+66A>C	ENSP00000496133.1:n.157+66A>C
ENST00000645020.1:n.2242A>C
ENST00000645285.1:c.157+66A>C	ENSP00000495058.1:n.157+66A>C
ENST00000645331.1:n.1318A>C
ENST00000645620.1:c.157+66A>C	ENSP00000493657.1:n.157+66A>C
ENST00000646777.1:n.1128A>C
ENST00000647016.1:n.1366+66A>C
ENST00000647152.1:c.157+66A>C	ENSP00000495893.1:n.157+66A>C
ENST00000647209.1:c.*755+66A>C	ENSP00000495558.1:n.*755+66A>C
ENST00000647346.1:n.1906+66A>C
ENST00000299427.10:c.886+66A>C	ENSP00000299427.6:n.886+66A>C
ENST00000436873.6:c.451-92A>C	ENSP00000398136.2:n.451-92A>C
ENST00000528807.1:n.502A>C
ENST00000533371.5:c.157+66A>C	ENSP00000437066.1:n.157+66A>C
ENST00000611494.4:c.886+66A>C	ENSP00000484546.1:n.886+66A>C
NM_000391.3:c.886+66A>C	NP_000382.3:n.886+66A>C
NM_000391.4:c.886+66A>C MANE Select	NP_000382.3:n.886+66A>C