Canonical Allele Identifier: CA472922293

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615252-G-A
• MyVariant Identifiers: chr11:g.6636483G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615252G>A , CM000673.2:g.6615252G>A	GRCh38
NC_000011.9:g.6636483G>A , CM000673.1:g.6636483G>A	GRCh37
NC_000011.8:g.6593059G>A	NCBI36
NG_008653.1:g.9210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1230C>T	ENSP00000507321.1:p.Ala410=
ENST00000299427.12:c.1344C>T MANE Select	ENSP00000299427.6:p.Ala448=
ENST00000524611.2:n.204C>T
ENST00000524924.2:n.464C>T
ENST00000533371.6:c.615C>T	ENSP00000437066.1:p.Ala205=
ENST00000642892.1:c.615C>T	ENSP00000494165.1:p.Ala205=
ENST00000643342.1:c.417C>T
ENST00000643439.1:c.*1084C>T	ENSP00000495849.1:n.*1084C>T
ENST00000643479.1:n.1530C>T
ENST00000643516.1:c.853C>T
ENST00000644218.1:c.1155C>T	ENSP00000493574.1:p.Ala385=
ENST00000644683.1:c.*797C>T	ENSP00000494085.1:n.*797C>T
ENST00000644810.1:c.1065C>T	ENSP00000495895.1:p.Ala355=
ENST00000644831.1:n.1520C>T
ENST00000644933.1:c.*210C>T	ENSP00000496133.1:n.*210C>T
ENST00000645285.1:c.*210C>T	ENSP00000495058.1:n.*210C>T
ENST00000645331.1:n.2549C>T
ENST00000645620.1:c.615C>T	ENSP00000493657.1:p.Ala205=
ENST00000646691.1:n.1231C>T
ENST00000646777.1:n.1677C>T
ENST00000647016.1:n.1824C>T
ENST00000647152.1:c.615C>T	ENSP00000495893.1:p.Ala205=
ENST00000647209.1:c.*1213C>T	ENSP00000495558.1:n.*1213C>T
ENST00000647346.1:n.2364C>T
ENST00000299427.10:c.1344C>T	ENSP00000299427.6:p.Ala448=
ENST00000524611.1:n.222C>T
ENST00000532191.1:n.397C>T
ENST00000533371.5:c.615C>T	ENSP00000437066.1:p.Ala205=
ENST00000611494.4:c.1344C>T	ENSP00000484546.1:p.Ala448=
NM_000391.3:c.1344C>T	NP_000382.3:p.Ala448=
NM_000391.4:c.1344C>T MANE Select	NP_000382.3:p.Ala448=