Canonical Allele Identifier: CA679350163

Gene: TPP1

Linked Data

• dbSNP Id: rs886048543
• gnomAD v3: 11-6616654-G-C
• gnomAD v4: 11-6616654-G-C
• MyVariant Identifiers: chr11:g.6637885G>C (hg19) ; chr11:g.6616654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616654G>C , CM000673.2:g.6616654G>C	GRCh38
NC_000011.9:g.6637885G>C , CM000673.1:g.6637885G>C	GRCh37
NC_000011.8:g.6594461G>C	NCBI36
NG_008653.1:g.7808C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.772+7C>G	ENSP00000507321.1:n.772+7C>G
ENST00000299427.12:c.886+7C>G MANE Select	ENSP00000299427.6:n.886+7C>G
ENST00000436873.7:c.313-580C>G
ENST00000524788.2:n.2052C>G
ENST00000524903.2:n.2168C>G
ENST00000528807.2:n.549C>G
ENST00000530040.2:n.480-151C>G
ENST00000533371.6:c.157+7C>G	ENSP00000437066.1:n.157+7C>G
ENST00000642892.1:c.157+7C>G	ENSP00000494165.1:n.157+7C>G
ENST00000643439.1:c.*626+7C>G	ENSP00000495849.1:n.*626+7C>G
ENST00000643479.1:n.922C>G
ENST00000643516.1:c.396-151C>G
ENST00000644151.1:n.2332C>G
ENST00000644218.1:c.886+7C>G	ENSP00000493574.1:n.886+7C>G
ENST00000644683.1:c.*339+7C>G	ENSP00000494085.1:n.*339+7C>G
ENST00000644810.1:c.607+7C>G	ENSP00000495895.1:n.607+7C>G
ENST00000644831.1:n.1062+7C>G
ENST00000644933.1:c.157+7C>G	ENSP00000496133.1:n.157+7C>G
ENST00000645020.1:n.2183C>G
ENST00000645285.1:c.157+7C>G	ENSP00000495058.1:n.157+7C>G
ENST00000645331.1:n.1259C>G
ENST00000645620.1:c.157+7C>G	ENSP00000493657.1:n.157+7C>G
ENST00000646777.1:n.1069C>G
ENST00000647016.1:n.1366+7C>G
ENST00000647152.1:c.157+7C>G	ENSP00000495893.1:n.157+7C>G
ENST00000647209.1:c.*755+7C>G	ENSP00000495558.1:n.*755+7C>G
ENST00000647346.1:n.1906+7C>G
ENST00000299427.10:c.886+7C>G	ENSP00000299427.6:n.886+7C>G
ENST00000436873.6:c.451-151C>G	ENSP00000398136.2:n.451-151C>G
ENST00000528807.1:n.443C>G
ENST00000533371.5:c.157+7C>G	ENSP00000437066.1:n.157+7C>G
ENST00000611494.4:c.886+7C>G	ENSP00000484546.1:n.886+7C>G
NM_000391.3:c.886+7C>G	NP_000382.3:n.886+7C>G
NM_000391.4:c.886+7C>G MANE Select	NP_000382.3:n.886+7C>G