Canonical Allele Identifier: CA5858581

Gene: TPP1

Linked Data

• dbSNP Id: rs747924226
• ExAC: 11:6635747 G / A
• gnomAD v2: 11-6635747-G-A
• gnomAD v4: 11-6614516-G-A
• MyVariant Identifiers: chr11:g.6635747G>A (hg19) ; chr11:g.6614516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614516G>A , CM000673.2:g.6614516G>A	GRCh38
NC_000011.9:g.6635747G>A , CM000673.1:g.6635747G>A	GRCh37
NC_000011.8:g.6592323G>A	NCBI36
NG_008653.1:g.9946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*30C>T	ENSP00000507321.1:n.*30C>T
ENST00000299427.12:c.*30C>T MANE Select	ENSP00000299427.6:n.*30C>T
ENST00000524611.2:n.761C>T
ENST00000533371.6:c.*30C>T	ENSP00000437066.1:n.*30C>T
ENST00000642892.1:c.*30C>T	ENSP00000494165.1:n.*30C>T
ENST00000643342.1:c.795C>T
ENST00000643439.1:c.*1462C>T	ENSP00000495849.1:n.*1462C>T
ENST00000643479.1:n.1908C>T
ENST00000643516.1:c.1231C>T
ENST00000644218.1:c.*30C>T	ENSP00000493574.1:n.*30C>T
ENST00000644683.1:c.*1175C>T	ENSP00000494085.1:n.*1175C>T
ENST00000644810.1:c.*30C>T	ENSP00000495895.1:n.*30C>T
ENST00000644831.1:n.1898C>T
ENST00000644933.1:c.*588C>T	ENSP00000496133.1:n.*588C>T
ENST00000645285.1:c.*588C>T	ENSP00000495058.1:n.*588C>T
ENST00000645331.1:n.2927C>T
ENST00000645620.1:c.*30C>T	ENSP00000493657.1:n.*30C>T
ENST00000646691.1:n.1609C>T
ENST00000646777.1:n.2055C>T
ENST00000647016.1:n.2202C>T
ENST00000647152.1:c.*30C>T	ENSP00000495893.1:n.*30C>T
ENST00000647209.1:c.*1591C>T	ENSP00000495558.1:n.*1591C>T
ENST00000647346.1:n.2742C>T
ENST00000299427.10:c.*30C>T	ENSP00000299427.6:n.*30C>T
ENST00000533371.5:c.*30C>T	ENSP00000437066.1:n.*30C>T
ENST00000611494.4:c.*50C>T	ENSP00000484546.1:n.*50C>T
NM_000391.3:c.*30C>T	NP_000382.3:n.*30C>T
NM_000391.4:c.*30C>T MANE Select	NP_000382.3:n.*30C>T