Canonical Allele Identifier: CA2612258085

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616557-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616557G>A , CM000673.2:g.6616557G>A	GRCh38
NC_000011.9:g.6637788G>A , CM000673.1:g.6637788G>A	GRCh37
NC_000011.8:g.6594364G>A	NCBI36
NG_008653.1:g.7905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-54C>T	ENSP00000507321.1:n.773-54C>T
ENST00000299427.12:c.887-54C>T MANE Select	ENSP00000299427.6:n.887-54C>T
ENST00000436873.7:c.313-483C>T
ENST00000524903.2:n.2265C>T
ENST00000528807.2:n.646C>T
ENST00000530040.2:n.480-54C>T
ENST00000533371.6:c.158-54C>T	ENSP00000437066.1:n.158-54C>T
ENST00000642892.1:c.158-54C>T	ENSP00000494165.1:n.158-54C>T
ENST00000643439.1:c.*627-54C>T	ENSP00000495849.1:n.*627-54C>T
ENST00000643479.1:n.1019C>T
ENST00000643516.1:c.396-54C>T
ENST00000644218.1:c.886+104C>T	ENSP00000493574.1:n.886+104C>T
ENST00000644683.1:c.*340-54C>T	ENSP00000494085.1:n.*340-54C>T
ENST00000644810.1:c.608-54C>T	ENSP00000495895.1:n.608-54C>T
ENST00000644831.1:n.1063-54C>T
ENST00000644933.1:c.158-54C>T	ENSP00000496133.1:n.158-54C>T
ENST00000645020.1:n.2280C>T
ENST00000645285.1:c.157+104C>T	ENSP00000495058.1:n.157+104C>T
ENST00000645331.1:n.1356C>T
ENST00000645620.1:c.158-54C>T	ENSP00000493657.1:n.158-54C>T
ENST00000646777.1:n.1166C>T
ENST00000647016.1:n.1367-54C>T
ENST00000647152.1:c.158-54C>T	ENSP00000495893.1:n.158-54C>T
ENST00000647209.1:c.*756-54C>T	ENSP00000495558.1:n.*756-54C>T
ENST00000647346.1:n.1907-54C>T
ENST00000299427.10:c.887-54C>T	ENSP00000299427.6:n.887-54C>T
ENST00000436873.6:c.451-54C>T	ENSP00000398136.2:n.451-54C>T
ENST00000528807.1:n.540C>T
ENST00000533371.5:c.158-54C>T	ENSP00000437066.1:n.158-54C>T
ENST00000611494.4:c.887-54C>T	ENSP00000484546.1:n.887-54C>T
NM_000391.3:c.887-54C>T	NP_000382.3:n.887-54C>T
NM_000391.4:c.887-54C>T MANE Select	NP_000382.3:n.887-54C>T