Canonical Allele Identifier: CA379475054

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637984C>G (hg19) ; chr11:g.6616753C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616753C>G , CM000673.2:g.6616753C>G	GRCh38
NC_000011.9:g.6637984C>G , CM000673.1:g.6637984C>G	GRCh37
NC_000011.8:g.6594560C>G	NCBI36
NG_008653.1:g.7709G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.680G>C	ENSP00000507321.1:p.Gly227Ala
ENST00000299427.12:c.794G>C MANE Select	ENSP00000299427.6:p.Gly265Ala
ENST00000436873.7:c.312+548G>C
ENST00000524788.2:n.1953G>C
ENST00000524903.2:n.2069G>C
ENST00000528807.2:n.450G>C
ENST00000530040.2:n.480-250G>C
ENST00000533371.6:c.65G>C	ENSP00000437066.1:p.Gly22Ala
ENST00000642892.1:c.65G>C	ENSP00000494165.1:p.Gly22Ala
ENST00000643439.1:c.*534G>C	ENSP00000495849.1:n.*534G>C
ENST00000643479.1:n.823G>C
ENST00000643516.1:c.396-250G>C
ENST00000644151.1:n.2233G>C
ENST00000644218.1:c.794G>C	ENSP00000493574.1:p.Gly265Ala
ENST00000644683.1:c.*247G>C	ENSP00000494085.1:n.*247G>C
ENST00000644810.1:c.515G>C	ENSP00000495895.1:p.Gly172Ala
ENST00000644831.1:n.970G>C
ENST00000644933.1:c.65G>C	ENSP00000496133.1:p.Gly22Ala
ENST00000645020.1:n.2084G>C
ENST00000645285.1:c.65G>C	ENSP00000495058.1:p.Gly22Ala
ENST00000645331.1:n.1160G>C
ENST00000645620.1:c.65G>C	ENSP00000493657.1:p.Gly22Ala
ENST00000646777.1:n.970G>C
ENST00000647016.1:n.1274G>C
ENST00000647152.1:c.65G>C	ENSP00000495893.1:p.Gly22Ala
ENST00000647209.1:c.*663G>C	ENSP00000495558.1:n.*663G>C
ENST00000647346.1:n.1814G>C
ENST00000299427.10:c.794G>C	ENSP00000299427.6:p.Gly265Ala
ENST00000436873.6:c.451-250G>C	ENSP00000398136.2:n.451-250G>C
ENST00000524788.1:n.494G>C
ENST00000528807.1:n.344G>C
ENST00000533371.5:c.65G>C	ENSP00000437066.1:p.Gly22Ala
ENST00000611494.4:c.794G>C	ENSP00000484546.1:p.Gly265Ala
NM_000391.3:c.794G>C	NP_000382.3:p.Gly265Ala
NM_000391.4:c.794G>C MANE Select	NP_000382.3:p.Gly265Ala