Canonical Allele Identifier: CA379475046

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637978C>G (hg19) ; chr11:g.6616747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616747C>G , CM000673.2:g.6616747C>G	GRCh38
NC_000011.9:g.6637978C>G , CM000673.1:g.6637978C>G	GRCh37
NC_000011.8:g.6594554C>G	NCBI36
NG_008653.1:g.7715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.686G>C	ENSP00000507321.1:p.Gly229Ala
ENST00000299427.12:c.800G>C MANE Select	ENSP00000299427.6:p.Gly267Ala
ENST00000436873.7:c.312+554G>C
ENST00000524788.2:n.1959G>C
ENST00000524903.2:n.2075G>C
ENST00000528807.2:n.456G>C
ENST00000530040.2:n.480-244G>C
ENST00000533371.6:c.71G>C	ENSP00000437066.1:p.Gly24Ala
ENST00000642892.1:c.71G>C	ENSP00000494165.1:p.Gly24Ala
ENST00000643439.1:c.*540G>C	ENSP00000495849.1:n.*540G>C
ENST00000643479.1:n.829G>C
ENST00000643516.1:c.396-244G>C
ENST00000644151.1:n.2239G>C
ENST00000644218.1:c.800G>C	ENSP00000493574.1:p.Gly267Ala
ENST00000644683.1:c.*253G>C	ENSP00000494085.1:n.*253G>C
ENST00000644810.1:c.521G>C	ENSP00000495895.1:p.Gly174Ala
ENST00000644831.1:n.976G>C
ENST00000644933.1:c.71G>C	ENSP00000496133.1:p.Gly24Ala
ENST00000645020.1:n.2090G>C
ENST00000645285.1:c.71G>C	ENSP00000495058.1:p.Gly24Ala
ENST00000645331.1:n.1166G>C
ENST00000645620.1:c.71G>C	ENSP00000493657.1:p.Gly24Ala
ENST00000646777.1:n.976G>C
ENST00000647016.1:n.1280G>C
ENST00000647152.1:c.71G>C	ENSP00000495893.1:p.Gly24Ala
ENST00000647209.1:c.*669G>C	ENSP00000495558.1:n.*669G>C
ENST00000647346.1:n.1820G>C
ENST00000299427.10:c.800G>C	ENSP00000299427.6:p.Gly267Ala
ENST00000436873.6:c.451-244G>C	ENSP00000398136.2:n.451-244G>C
ENST00000524788.1:n.500G>C
ENST00000528807.1:n.350G>C
ENST00000533371.5:c.71G>C	ENSP00000437066.1:p.Gly24Ala
ENST00000611494.4:c.800G>C	ENSP00000484546.1:p.Gly267Ala
NM_000391.3:c.800G>C	NP_000382.3:p.Gly267Ala
NM_000391.4:c.800G>C MANE Select	NP_000382.3:p.Gly267Ala