Canonical Allele Identifier: CA679350136

Gene: TPP1

Linked Data

• dbSNP Id: rs1199024054
• gnomAD v3: 11-6616596-G-C
• gnomAD v4: 11-6616596-G-C
• MyVariant Identifiers: chr11:g.6637827G>C (hg19) ; chr11:g.6616596G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616596G>C , CM000673.2:g.6616596G>C	GRCh38
NC_000011.9:g.6637827G>C , CM000673.1:g.6637827G>C	GRCh37
NC_000011.8:g.6594403G>C	NCBI36
NG_008653.1:g.7866C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.772+65C>G	ENSP00000507321.1:n.772+65C>G
ENST00000299427.12:c.886+65C>G MANE Select	ENSP00000299427.6:n.886+65C>G
ENST00000436873.7:c.313-522C>G
ENST00000524903.2:n.2226C>G
ENST00000528807.2:n.607C>G
ENST00000530040.2:n.480-93C>G
ENST00000533371.6:c.157+65C>G	ENSP00000437066.1:n.157+65C>G
ENST00000642892.1:c.157+65C>G	ENSP00000494165.1:n.157+65C>G
ENST00000643439.1:c.*626+65C>G	ENSP00000495849.1:n.*626+65C>G
ENST00000643479.1:n.980C>G
ENST00000643516.1:c.396-93C>G
ENST00000644218.1:c.886+65C>G	ENSP00000493574.1:n.886+65C>G
ENST00000644683.1:c.*339+65C>G	ENSP00000494085.1:n.*339+65C>G
ENST00000644810.1:c.607+65C>G	ENSP00000495895.1:n.607+65C>G
ENST00000644831.1:n.1062+65C>G
ENST00000644933.1:c.157+65C>G	ENSP00000496133.1:n.157+65C>G
ENST00000645020.1:n.2241C>G
ENST00000645285.1:c.157+65C>G	ENSP00000495058.1:n.157+65C>G
ENST00000645331.1:n.1317C>G
ENST00000645620.1:c.157+65C>G	ENSP00000493657.1:n.157+65C>G
ENST00000646777.1:n.1127C>G
ENST00000647016.1:n.1366+65C>G
ENST00000647152.1:c.157+65C>G	ENSP00000495893.1:n.157+65C>G
ENST00000647209.1:c.*755+65C>G	ENSP00000495558.1:n.*755+65C>G
ENST00000647346.1:n.1906+65C>G
ENST00000299427.10:c.886+65C>G	ENSP00000299427.6:n.886+65C>G
ENST00000436873.6:c.451-93C>G	ENSP00000398136.2:n.451-93C>G
ENST00000528807.1:n.501C>G
ENST00000533371.5:c.157+65C>G	ENSP00000437066.1:n.157+65C>G
ENST00000611494.4:c.886+65C>G	ENSP00000484546.1:n.886+65C>G
NM_000391.3:c.886+65C>G	NP_000382.3:n.886+65C>G
NM_000391.4:c.886+65C>G MANE Select	NP_000382.3:n.886+65C>G