Canonical Allele Identifier: CA472922716

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616737-C-T
• MyVariant Identifiers: chr11:g.6637968C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616737C>T , CM000673.2:g.6616737C>T	GRCh38
NC_000011.9:g.6637968C>T , CM000673.1:g.6637968C>T	GRCh37
NC_000011.8:g.6594544C>T	NCBI36
NG_008653.1:g.7725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.696G>A	ENSP00000507321.1:p.Gly232=
ENST00000299427.12:c.810G>A MANE Select	ENSP00000299427.6:p.Gly270=
ENST00000436873.7:c.312+564G>A
ENST00000524788.2:n.1969G>A
ENST00000524903.2:n.2085G>A
ENST00000528807.2:n.466G>A
ENST00000530040.2:n.480-234G>A
ENST00000533371.6:c.81G>A	ENSP00000437066.1:p.Gly27=
ENST00000642892.1:c.81G>A	ENSP00000494165.1:p.Gly27=
ENST00000643439.1:c.*550G>A	ENSP00000495849.1:n.*550G>A
ENST00000643479.1:n.839G>A
ENST00000643516.1:c.396-234G>A
ENST00000644151.1:n.2249G>A
ENST00000644218.1:c.810G>A	ENSP00000493574.1:p.Gly270=
ENST00000644683.1:c.*263G>A	ENSP00000494085.1:n.*263G>A
ENST00000644810.1:c.531G>A	ENSP00000495895.1:p.Gly177=
ENST00000644831.1:n.986G>A
ENST00000644933.1:c.81G>A	ENSP00000496133.1:p.Gly27=
ENST00000645020.1:n.2100G>A
ENST00000645285.1:c.81G>A	ENSP00000495058.1:p.Gly27=
ENST00000645331.1:n.1176G>A
ENST00000645620.1:c.81G>A	ENSP00000493657.1:p.Gly27=
ENST00000646777.1:n.986G>A
ENST00000647016.1:n.1290G>A
ENST00000647152.1:c.81G>A	ENSP00000495893.1:p.Gly27=
ENST00000647209.1:c.*679G>A	ENSP00000495558.1:n.*679G>A
ENST00000647346.1:n.1830G>A
ENST00000299427.10:c.810G>A	ENSP00000299427.6:p.Gly270=
ENST00000436873.6:c.451-234G>A	ENSP00000398136.2:n.451-234G>A
ENST00000524788.1:n.510G>A
ENST00000528807.1:n.360G>A
ENST00000533371.5:c.81G>A	ENSP00000437066.1:p.Gly27=
ENST00000611494.4:c.810G>A	ENSP00000484546.1:p.Gly270=
NM_000391.3:c.810G>A	NP_000382.3:p.Gly270=
NM_000391.4:c.810G>A MANE Select	NP_000382.3:p.Gly270=