Canonical Allele Identifier: CA379475648

Gene: TPP1

Linked Data

• dbSNP Id: rs1368354280
• gnomAD v2: 11-6638379-C-A
• gnomAD v4: 11-6617148-C-A
• MyVariant Identifiers: chr11:g.6638379C>A (hg19) ; chr11:g.6617148C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617148C>A , CM000673.2:g.6617148C>A	GRCh38
NC_000011.9:g.6638379C>A , CM000673.1:g.6638379C>A	GRCh37
NC_000011.8:g.6594955C>A	NCBI36
NG_008653.1:g.7314G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.400G>T	ENSP00000507321.1:p.Gly134Ter
ENST00000299427.12:c.514G>T MANE Select	ENSP00000299427.6:p.Gly172Ter
ENST00000428886.7:n.749G>T
ENST00000436873.7:c.312+153G>T
ENST00000524788.2:n.1673G>T
ENST00000524903.2:n.1789G>T
ENST00000528807.2:n.170G>T
ENST00000530040.2:n.479+211G>T
ENST00000533371.6:c.-216G>T	ENSP00000437066.1:n.-216G>T
ENST00000534644.6:n.462G>T
ENST00000642892.1:c.-216G>T	ENSP00000494165.1:n.-216G>T
ENST00000643439.1:c.*254G>T	ENSP00000495849.1:n.*254G>T
ENST00000643479.1:n.543G>T
ENST00000643516.1:c.395+153G>T
ENST00000644151.1:n.1953G>T
ENST00000644218.1:c.514G>T	ENSP00000493574.1:p.Gly172Ter
ENST00000644683.1:c.456G>T	ENSP00000494085.1:p.Gly152=
ENST00000644810.1:c.235G>T	ENSP00000495895.1:p.Gly79Ter
ENST00000644831.1:n.690G>T
ENST00000644933.1:c.-216G>T	ENSP00000496133.1:n.-216G>T
ENST00000645020.1:n.1689G>T
ENST00000645285.1:c.-216G>T	ENSP00000495058.1:n.-216G>T
ENST00000645331.1:n.880G>T
ENST00000645620.1:c.-216G>T	ENSP00000493657.1:n.-216G>T
ENST00000646777.1:n.690G>T
ENST00000647016.1:n.994G>T
ENST00000647152.1:c.-216G>T	ENSP00000495893.1:n.-216G>T
ENST00000647209.1:c.*383G>T	ENSP00000495558.1:n.*383G>T
ENST00000647346.1:n.1534G>T
ENST00000299427.10:c.514G>T	ENSP00000299427.6:p.Gly172Ter
ENST00000428886.6:n.683G>T
ENST00000436873.6:c.450+211G>T	ENSP00000398136.2:n.450+211G>T
ENST00000524788.1:n.214G>T
ENST00000528571.5:c.*254G>T	ENSP00000434647.1:n.*254G>T
ENST00000528807.1:n.64G>T
ENST00000533371.5:c.-216G>T	ENSP00000437066.1:n.-216G>T
ENST00000534644.5:n.499G>T
ENST00000611494.4:c.514G>T	ENSP00000484546.1:p.Gly172Ter
NM_000391.3:c.514G>T	NP_000382.3:p.Gly172Ter
NM_000391.4:c.514G>T MANE Select	NP_000382.3:p.Gly172Ter