Canonical Allele Identifier: CA5858909

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1926219
• ClinVar RCV Id: RCV002626305
• dbSNP Id: rs749686418
• ExAC: 11:6638391 G / A
• gnomAD v2: 11-6638391-G-A
• gnomAD v4: 11-6617160-G-A
• MyVariant Identifiers: chr11:g.6638391G>A (hg19) ; chr11:g.6617160G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617160G>A , CM000673.2:g.6617160G>A	GRCh38
NC_000011.9:g.6638391G>A , CM000673.1:g.6638391G>A	GRCh37
NC_000011.8:g.6594967G>A	NCBI36
NG_008653.1:g.7302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.395-7C>T	ENSP00000507321.1:n.395-7C>T
ENST00000299427.12:c.509-7C>T MANE Select	ENSP00000299427.6:n.509-7C>T
ENST00000428886.7:n.737C>T
ENST00000436873.7:c.312+141C>T
ENST00000524788.2:n.1661C>T
ENST00000524903.2:n.1777C>T
ENST00000528807.2:n.165-7C>T
ENST00000530040.2:n.479+199C>T
ENST00000533371.6:c.-221-7C>T	ENSP00000437066.1:n.-221-7C>T
ENST00000534644.6:n.457-7C>T
ENST00000642892.1:c.-221-7C>T	ENSP00000494165.1:n.-221-7C>T
ENST00000643439.1:c.*249-7C>T	ENSP00000495849.1:n.*249-7C>T
ENST00000643479.1:n.538-7C>T
ENST00000643516.1:c.395+141C>T
ENST00000644151.1:n.1941C>T
ENST00000644218.1:c.509-7C>T	ENSP00000493574.1:n.509-7C>T
ENST00000644683.1:c.451-7C>T	ENSP00000494085.1:n.451-7C>T
ENST00000644810.1:c.230-7C>T	ENSP00000495895.1:n.230-7C>T
ENST00000644831.1:n.678C>T
ENST00000644933.1:c.-221-7C>T	ENSP00000496133.1:n.-221-7C>T
ENST00000645020.1:n.1677C>T
ENST00000645285.1:c.-221-7C>T	ENSP00000495058.1:n.-221-7C>T
ENST00000645331.1:n.868C>T
ENST00000645620.1:c.-221-7C>T	ENSP00000493657.1:n.-221-7C>T
ENST00000646777.1:n.678C>T
ENST00000647016.1:n.982C>T
ENST00000647152.1:c.-221-7C>T	ENSP00000495893.1:n.-221-7C>T
ENST00000647209.1:c.*378-7C>T	ENSP00000495558.1:n.*378-7C>T
ENST00000647346.1:n.1529-7C>T
ENST00000299427.10:c.509-7C>T	ENSP00000299427.6:n.509-7C>T
ENST00000428886.6:n.671C>T
ENST00000436873.6:c.450+199C>T	ENSP00000398136.2:n.450+199C>T
ENST00000524788.1:n.202C>T
ENST00000528571.5:c.*249-7C>T	ENSP00000434647.1:n.*249-7C>T
ENST00000528807.1:n.52C>T
ENST00000533371.5:c.-221-7C>T	ENSP00000437066.1:n.-221-7C>T
ENST00000534644.5:n.494-7C>T
ENST00000611494.4:c.509-7C>T	ENSP00000484546.1:n.509-7C>T
NM_000391.3:c.509-7C>T	NP_000382.3:n.509-7C>T
NM_000391.4:c.509-7C>T MANE Select	NP_000382.3:n.509-7C>T