Canonical Allele Identifier: CA5858578

Gene: TPP1

Linked Data

• dbSNP Id: rs751256397
• ExAC: 11:6635735 C / T
• gnomAD v2: 11-6635735-C-T
• gnomAD v3: 11-6614504-C-T
• gnomAD v4: 11-6614504-C-T
• MyVariant Identifiers: chr11:g.6635735C>T (hg19) ; chr11:g.6614504C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614504C>T , CM000673.2:g.6614504C>T	GRCh38
NC_000011.9:g.6635735C>T , CM000673.1:g.6635735C>T	GRCh37
NC_000011.8:g.6592311C>T	NCBI36
NG_008653.1:g.9958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*42G>A	ENSP00000507321.1:n.*42G>A
ENST00000299427.12:c.*42G>A MANE Select	ENSP00000299427.6:n.*42G>A
ENST00000524611.2:n.773G>A
ENST00000533371.6:c.*42G>A	ENSP00000437066.1:n.*42G>A
ENST00000642892.1:c.*42G>A	ENSP00000494165.1:n.*42G>A
ENST00000643342.1:c.807G>A
ENST00000643439.1:c.*1474G>A	ENSP00000495849.1:n.*1474G>A
ENST00000643479.1:n.1920G>A
ENST00000643516.1:c.1243G>A
ENST00000644218.1:c.*42G>A	ENSP00000493574.1:n.*42G>A
ENST00000644683.1:c.*1187G>A	ENSP00000494085.1:n.*1187G>A
ENST00000644810.1:c.*42G>A	ENSP00000495895.1:n.*42G>A
ENST00000644831.1:n.1910G>A
ENST00000644933.1:c.*600G>A	ENSP00000496133.1:n.*600G>A
ENST00000645285.1:c.*600G>A	ENSP00000495058.1:n.*600G>A
ENST00000645331.1:n.2939G>A
ENST00000645620.1:c.*42G>A	ENSP00000493657.1:n.*42G>A
ENST00000646691.1:n.1621G>A
ENST00000646777.1:n.2067G>A
ENST00000647016.1:n.2214G>A
ENST00000647152.1:c.*42G>A	ENSP00000495893.1:n.*42G>A
ENST00000647209.1:c.*1603G>A	ENSP00000495558.1:n.*1603G>A
ENST00000647346.1:n.2754G>A
ENST00000299427.10:c.*42G>A	ENSP00000299427.6:n.*42G>A
ENST00000533371.5:c.*42G>A	ENSP00000437066.1:n.*42G>A
ENST00000611494.4:c.*62G>A	ENSP00000484546.1:n.*62G>A
NM_000391.3:c.*42G>A	NP_000382.3:n.*42G>A
NM_000391.4:c.*42G>A MANE Select	NP_000382.3:n.*42G>A