Canonical Allele Identifier: CA379473860

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637294C>G (hg19) ; chr11:g.6616063C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616063C>G , CM000673.2:g.6616063C>G	GRCh38
NC_000011.9:g.6637294C>G , CM000673.1:g.6637294C>G	GRCh37
NC_000011.8:g.6593870C>G	NCBI36
NG_008653.1:g.8399G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.973G>C	ENSP00000507321.1:p.Ala325Pro
ENST00000299427.12:c.1087G>C MANE Select	ENSP00000299427.6:p.Ala363Pro
ENST00000436873.7:c.324G>C
ENST00000524924.2:n.207G>C
ENST00000533371.6:c.358G>C	ENSP00000437066.1:p.Ala120Pro
ENST00000642892.1:c.358G>C	ENSP00000494165.1:p.Ala120Pro
ENST00000643342.1:c.177G>C
ENST00000643439.1:c.*827G>C	ENSP00000495849.1:n.*827G>C
ENST00000643479.1:n.1273G>C
ENST00000643516.1:c.596G>C
ENST00000644218.1:c.898G>C	ENSP00000493574.1:p.Ala300Pro
ENST00000644683.1:c.*540G>C	ENSP00000494085.1:n.*540G>C
ENST00000644810.1:c.808G>C	ENSP00000495895.1:p.Ala270Pro
ENST00000644831.1:n.1263G>C
ENST00000644933.1:c.358G>C	ENSP00000496133.1:p.Ala120Pro
ENST00000645285.1:c.169G>C	ENSP00000495058.1:p.Ala57Pro
ENST00000645331.1:n.1850G>C
ENST00000645620.1:c.358G>C	ENSP00000493657.1:p.Ala120Pro
ENST00000646691.1:n.420G>C
ENST00000646777.1:n.1420G>C
ENST00000647016.1:n.1567G>C
ENST00000647152.1:c.358G>C	ENSP00000495893.1:p.Ala120Pro
ENST00000647209.1:c.*956G>C	ENSP00000495558.1:n.*956G>C
ENST00000647346.1:n.2107G>C
ENST00000299427.10:c.1087G>C	ENSP00000299427.6:p.Ala363Pro
ENST00000524924.1:n.42G>C
ENST00000533371.5:c.358G>C	ENSP00000437066.1:p.Ala120Pro
ENST00000611494.4:c.1087G>C	ENSP00000484546.1:p.Ala363Pro
NM_000391.3:c.1087G>C	NP_000382.3:p.Ala363Pro
NM_000391.4:c.1087G>C MANE Select	NP_000382.3:p.Ala363Pro