Canonical Allele Identifier: CA5858929

Gene: TPP1

Linked Data

• dbSNP Id: rs544141660
• ExAC: 11:6638490 G / A
• gnomAD v2: 11-6638490-G-A
• gnomAD v3: 11-6617259-G-A
• gnomAD v4: 11-6617259-G-A
• MyVariant Identifiers: chr11:g.6638490G>A (hg19) ; chr11:g.6617259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617259G>A , CM000673.2:g.6617259G>A	GRCh38
NC_000011.9:g.6638490G>A , CM000673.1:g.6638490G>A	GRCh37
NC_000011.8:g.6595066G>A	NCBI36
NG_008653.1:g.7203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394+42C>T	ENSP00000507321.1:n.394+42C>T
ENST00000299427.12:c.508+42C>T MANE Select	ENSP00000299427.6:n.508+42C>T
ENST00000428886.7:n.638C>T
ENST00000436873.7:c.312+42C>T
ENST00000524788.2:n.1562C>T
ENST00000524903.2:n.1678C>T
ENST00000528571.6:c.*290C>T	ENSP00000434647.1:n.*290C>T
ENST00000528807.2:n.164+42C>T
ENST00000530040.2:n.479+100C>T
ENST00000533371.6:c.-222+42C>T	ENSP00000437066.1:n.-222+42C>T
ENST00000534644.6:n.456+95C>T
ENST00000642892.1:c.-222+95C>T	ENSP00000494165.1:n.-222+95C>T
ENST00000643439.1:c.*248+42C>T	ENSP00000495849.1:n.*248+42C>T
ENST00000643479.1:n.537+42C>T
ENST00000643516.1:c.395+42C>T
ENST00000644151.1:n.1842C>T
ENST00000644218.1:c.508+42C>T	ENSP00000493574.1:n.508+42C>T
ENST00000644683.1:c.450+100C>T	ENSP00000494085.1:n.450+100C>T
ENST00000644810.1:c.230-106C>T	ENSP00000495895.1:n.230-106C>T
ENST00000644831.1:n.579C>T
ENST00000644933.1:c.-222+42C>T	ENSP00000496133.1:n.-222+42C>T
ENST00000645020.1:n.1578C>T
ENST00000645285.1:c.-222+42C>T	ENSP00000495058.1:n.-222+42C>T
ENST00000645331.1:n.769C>T
ENST00000645620.1:c.-222+100C>T	ENSP00000493657.1:n.-222+100C>T
ENST00000646777.1:n.579C>T
ENST00000647016.1:n.883C>T
ENST00000647152.1:c.-222+42C>T	ENSP00000495893.1:n.-222+42C>T
ENST00000647209.1:c.*377+42C>T	ENSP00000495558.1:n.*377+42C>T
ENST00000647346.1:n.1528+42C>T
ENST00000299427.10:c.508+42C>T	ENSP00000299427.6:n.508+42C>T
ENST00000428886.6:n.572C>T
ENST00000436873.6:c.450+100C>T	ENSP00000398136.2:n.450+100C>T
ENST00000524788.1:n.103C>T
ENST00000528571.5:c.*248+42C>T	ENSP00000434647.1:n.*248+42C>T
ENST00000533371.5:c.-222+42C>T	ENSP00000437066.1:n.-222+42C>T
ENST00000534644.5:n.493+42C>T
ENST00000611494.4:c.508+42C>T	ENSP00000484546.1:n.508+42C>T
NM_000391.3:c.508+42C>T	NP_000382.3:n.508+42C>T
NM_000391.4:c.508+42C>T MANE Select	NP_000382.3:n.508+42C>T