Canonical Allele Identifier: CA2612258055

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616506-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616506G>T , CM000673.2:g.6616506G>T	GRCh38
NC_000011.9:g.6637737G>T , CM000673.1:g.6637737G>T	GRCh37
NC_000011.8:g.6594313G>T	NCBI36
NG_008653.1:g.7956C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-3C>A	ENSP00000507321.1:n.773-3C>A
ENST00000299427.12:c.887-3C>A MANE Select	ENSP00000299427.6:n.887-3C>A
ENST00000436873.7:c.313-432C>A
ENST00000530040.2:n.480-3C>A
ENST00000533371.6:c.158-3C>A	ENSP00000437066.1:n.158-3C>A
ENST00000642892.1:c.158-3C>A	ENSP00000494165.1:n.158-3C>A
ENST00000643439.1:c.*627-3C>A	ENSP00000495849.1:n.*627-3C>A
ENST00000643479.1:n.1070C>A
ENST00000643516.1:c.396-3C>A
ENST00000644218.1:c.886+155C>A	ENSP00000493574.1:n.886+155C>A
ENST00000644683.1:c.*340-3C>A	ENSP00000494085.1:n.*340-3C>A
ENST00000644810.1:c.608-3C>A	ENSP00000495895.1:n.608-3C>A
ENST00000644831.1:n.1063-3C>A
ENST00000644933.1:c.158-3C>A	ENSP00000496133.1:n.158-3C>A
ENST00000645285.1:c.157+155C>A	ENSP00000495058.1:n.157+155C>A
ENST00000645331.1:n.1407C>A
ENST00000645620.1:c.158-3C>A	ENSP00000493657.1:n.158-3C>A
ENST00000646777.1:n.1217C>A
ENST00000647016.1:n.1367-3C>A
ENST00000647152.1:c.158-3C>A	ENSP00000495893.1:n.158-3C>A
ENST00000647209.1:c.*756-3C>A	ENSP00000495558.1:n.*756-3C>A
ENST00000647346.1:n.1907-3C>A
ENST00000299427.10:c.887-3C>A	ENSP00000299427.6:n.887-3C>A
ENST00000436873.6:c.451-3C>A	ENSP00000398136.2:n.451-3C>A
ENST00000533371.5:c.158-3C>A	ENSP00000437066.1:n.158-3C>A
ENST00000611494.4:c.887-3C>A	ENSP00000484546.1:n.887-3C>A
NM_000391.3:c.887-3C>A	NP_000382.3:n.887-3C>A
NM_000391.4:c.887-3C>A MANE Select	NP_000382.3:n.887-3C>A