Canonical Allele Identifier: CA379471979

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635806C>G (hg19) ; chr11:g.6614575C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614575C>G , CM000673.2:g.6614575C>G	GRCh38
NC_000011.9:g.6635806C>G , CM000673.1:g.6635806C>G	GRCh37
NC_000011.8:g.6592382C>G	NCBI36
NG_008653.1:g.9887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1549G>C	ENSP00000507321.1:p.Ala517Pro
ENST00000299427.12:c.1663G>C MANE Select	ENSP00000299427.6:p.Ala555Pro
ENST00000524611.2:n.702G>C
ENST00000533371.6:c.934G>C	ENSP00000437066.1:p.Ala312Pro
ENST00000642892.1:c.934G>C	ENSP00000494165.1:p.Ala312Pro
ENST00000643342.1:c.736G>C
ENST00000643439.1:c.*1403G>C	ENSP00000495849.1:n.*1403G>C
ENST00000643479.1:n.1849G>C
ENST00000643516.1:c.1172G>C
ENST00000644218.1:c.1474G>C	ENSP00000493574.1:p.Ala492Pro
ENST00000644683.1:c.*1116G>C	ENSP00000494085.1:n.*1116G>C
ENST00000644810.1:c.1384G>C	ENSP00000495895.1:p.Ala462Pro
ENST00000644831.1:n.1839G>C
ENST00000644933.1:c.*529G>C	ENSP00000496133.1:n.*529G>C
ENST00000645285.1:c.*529G>C	ENSP00000495058.1:n.*529G>C
ENST00000645331.1:n.2868G>C
ENST00000645620.1:c.934G>C	ENSP00000493657.1:p.Ala312Pro
ENST00000646691.1:n.1550G>C
ENST00000646777.1:n.1996G>C
ENST00000647016.1:n.2143G>C
ENST00000647152.1:c.934G>C	ENSP00000495893.1:p.Ala312Pro
ENST00000647209.1:c.*1532G>C	ENSP00000495558.1:n.*1532G>C
ENST00000647346.1:n.2683G>C
ENST00000299427.10:c.1663G>C	ENSP00000299427.6:p.Ala555Pro
ENST00000533371.5:c.934G>C	ENSP00000437066.1:p.Ala312Pro
ENST00000611494.4:c.1662G>C	ENSP00000484546.1:p.Gln554His
NM_000391.3:c.1663G>C	NP_000382.3:p.Ala555Pro
NM_000391.4:c.1663G>C MANE Select	NP_000382.3:p.Ala555Pro