Canonical Allele Identifier: CA379475180

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638046C>G (hg19) ; chr11:g.6616815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616815C>G , CM000673.2:g.6616815C>G	GRCh38
NC_000011.9:g.6638046C>G , CM000673.1:g.6638046C>G	GRCh37
NC_000011.8:g.6594622C>G	NCBI36
NG_008653.1:g.7647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.618G>C	ENSP00000507321.1:p.Met206Ile
ENST00000299427.12:c.732G>C MANE Select	ENSP00000299427.6:p.Met244Ile
ENST00000436873.7:c.312+486G>C
ENST00000524788.2:n.1891G>C
ENST00000524903.2:n.2007G>C
ENST00000528807.2:n.388G>C
ENST00000530040.2:n.480-312G>C
ENST00000533371.6:c.3G>C	ENSP00000437066.1:p.Met1Ile
ENST00000642892.1:c.3G>C	ENSP00000494165.1:p.Met1Ile
ENST00000643439.1:c.*472G>C	ENSP00000495849.1:n.*472G>C
ENST00000643479.1:n.761G>C
ENST00000643516.1:c.396-312G>C
ENST00000644151.1:n.2171G>C
ENST00000644218.1:c.732G>C	ENSP00000493574.1:p.Met244Ile
ENST00000644683.1:c.*185G>C	ENSP00000494085.1:n.*185G>C
ENST00000644810.1:c.453G>C	ENSP00000495895.1:p.Met151Ile
ENST00000644831.1:n.908G>C
ENST00000644933.1:c.3G>C	ENSP00000496133.1:p.Met1Ile
ENST00000645020.1:n.2022G>C
ENST00000645285.1:c.3G>C	ENSP00000495058.1:p.Met1Ile
ENST00000645331.1:n.1098G>C
ENST00000645620.1:c.3G>C	ENSP00000493657.1:p.Met1Ile
ENST00000646777.1:n.908G>C
ENST00000647016.1:n.1212G>C
ENST00000647152.1:c.3G>C	ENSP00000495893.1:p.Met1Ile
ENST00000647209.1:c.*601G>C	ENSP00000495558.1:n.*601G>C
ENST00000647346.1:n.1752G>C
ENST00000299427.10:c.732G>C	ENSP00000299427.6:p.Met244Ile
ENST00000436873.6:c.451-312G>C	ENSP00000398136.2:n.451-312G>C
ENST00000524788.1:n.432G>C
ENST00000528807.1:n.282G>C
ENST00000533371.5:c.3G>C	ENSP00000437066.1:p.Met1Ile
ENST00000611494.4:c.732G>C	ENSP00000484546.1:p.Met244Ile
NM_000391.3:c.732G>C	NP_000382.3:p.Met244Ile
NM_000391.4:c.732G>C MANE Select	NP_000382.3:p.Met244Ile