Canonical Allele Identifier: CA679346930

Gene: TPP1

Linked Data

• dbSNP Id: rs1304668108
• gnomAD v4: 11-6614488-G-C
• MyVariant Identifiers: chr11:g.6635719G>C (hg19) ; chr11:g.6614488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614488G>C , CM000673.2:g.6614488G>C	GRCh38
NC_000011.9:g.6635719G>C , CM000673.1:g.6635719G>C	GRCh37
NC_000011.8:g.6592295G>C	NCBI36
NG_008653.1:g.9974C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*58C>G	ENSP00000507321.1:n.*58C>G
ENST00000299427.12:c.*58C>G MANE Select	ENSP00000299427.6:n.*58C>G
ENST00000524611.2:n.789C>G
ENST00000533371.6:c.*58C>G	ENSP00000437066.1:n.*58C>G
ENST00000642892.1:c.*58C>G	ENSP00000494165.1:n.*58C>G
ENST00000643342.1:c.823C>G
ENST00000643439.1:c.*1490C>G	ENSP00000495849.1:n.*1490C>G
ENST00000643479.1:n.1936C>G
ENST00000643516.1:c.1259C>G
ENST00000644218.1:c.*58C>G	ENSP00000493574.1:n.*58C>G
ENST00000644683.1:c.*1203C>G	ENSP00000494085.1:n.*1203C>G
ENST00000644810.1:c.*58C>G	ENSP00000495895.1:n.*58C>G
ENST00000644831.1:n.1926C>G
ENST00000644933.1:c.*616C>G	ENSP00000496133.1:n.*616C>G
ENST00000645285.1:c.*616C>G	ENSP00000495058.1:n.*616C>G
ENST00000645331.1:n.2955C>G
ENST00000645620.1:c.*58C>G	ENSP00000493657.1:n.*58C>G
ENST00000646691.1:n.1637C>G
ENST00000646777.1:n.2083C>G
ENST00000647016.1:n.2230C>G
ENST00000647152.1:c.*58C>G	ENSP00000495893.1:n.*58C>G
ENST00000647209.1:c.*1619C>G	ENSP00000495558.1:n.*1619C>G
ENST00000647346.1:n.2770C>G
ENST00000299427.10:c.*58C>G	ENSP00000299427.6:n.*58C>G
ENST00000533371.5:c.*58C>G	ENSP00000437066.1:n.*58C>G
ENST00000611494.4:c.*78C>G	ENSP00000484546.1:n.*78C>G
NM_000391.3:c.*58C>G	NP_000382.3:n.*58C>G
NM_000391.4:c.*58C>G MANE Select	NP_000382.3:n.*58C>G