Canonical Allele Identifier: CA5858706

Gene: TPP1

Linked Data

• dbSNP Id: rs148950375
• ExAC: 11:6636748 G / A
• gnomAD v2: 11-6636748-G-A
• gnomAD v4: 11-6615517-G-A
• MyVariant Identifiers: chr11:g.6636748G>A (hg19) ; chr11:g.6615517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615517G>A , CM000673.2:g.6615517G>A	GRCh38
NC_000011.9:g.6636748G>A , CM000673.1:g.6636748G>A	GRCh37
NC_000011.8:g.6593324G>A	NCBI36
NG_008653.1:g.8945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1077C>T	ENSP00000507321.1:p.Phe359=
ENST00000299427.12:c.1191C>T MANE Select	ENSP00000299427.6:p.Phe397=
ENST00000436873.7:c.428C>T
ENST00000524924.2:n.311C>T
ENST00000533371.6:c.462C>T	ENSP00000437066.1:p.Phe154=
ENST00000642892.1:c.462C>T	ENSP00000494165.1:p.Phe154=
ENST00000643342.1:c.264C>T
ENST00000643439.1:c.*931C>T	ENSP00000495849.1:n.*931C>T
ENST00000643479.1:n.1377C>T
ENST00000643516.1:c.700C>T
ENST00000644218.1:c.1002C>T	ENSP00000493574.1:p.Phe334=
ENST00000644683.1:c.*644C>T	ENSP00000494085.1:n.*644C>T
ENST00000644810.1:c.912C>T	ENSP00000495895.1:p.Phe304=
ENST00000644831.1:n.1367C>T
ENST00000644933.1:c.*57C>T	ENSP00000496133.1:n.*57C>T
ENST00000645285.1:c.*57C>T	ENSP00000495058.1:n.*57C>T
ENST00000645331.1:n.2396C>T
ENST00000645620.1:c.462C>T	ENSP00000493657.1:p.Phe154=
ENST00000646691.1:n.966C>T
ENST00000646777.1:n.1524C>T
ENST00000647016.1:n.1671C>T
ENST00000647152.1:c.462C>T	ENSP00000495893.1:p.Phe154=
ENST00000647209.1:c.*1060C>T	ENSP00000495558.1:n.*1060C>T
ENST00000647346.1:n.2211C>T
ENST00000299427.10:c.1191C>T	ENSP00000299427.6:p.Phe397=
ENST00000524924.1:n.146C>T
ENST00000532191.1:n.244C>T
ENST00000533371.5:c.462C>T	ENSP00000437066.1:p.Phe154=
ENST00000611494.4:c.1191C>T	ENSP00000484546.1:p.Phe397=
NM_000391.3:c.1191C>T	NP_000382.3:p.Phe397=
NM_000391.4:c.1191C>T MANE Select	NP_000382.3:p.Phe397=