Canonical Allele Identifier: CA379476366

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617692-G-A
• MyVariant Identifiers: chr11:g.6638923G>A (hg19) ; chr11:g.6617692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617692G>A , CM000673.2:g.6617692G>A	GRCh38
NC_000011.9:g.6638923G>A , CM000673.1:g.6638923G>A	GRCh37
NC_000011.8:g.6595499G>A	NCBI36
NG_008653.1:g.6770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.200C>T	ENSP00000507321.1:p.Ala67Val
ENST00000299427.12:c.314C>T MANE Select	ENSP00000299427.6:p.Ala105Val
ENST00000428886.7:n.402C>T
ENST00000436873.7:c.118C>T
ENST00000524788.2:n.1326C>T
ENST00000524903.2:n.1442C>T
ENST00000528571.6:c.*54C>T	ENSP00000434647.1:n.*54C>T
ENST00000530040.2:n.343C>T
ENST00000533371.6:c.-416C>T	ENSP00000437066.1:n.-416C>T
ENST00000534644.6:n.315C>T
ENST00000642892.1:c.-363C>T	ENSP00000494165.1:n.-363C>T
ENST00000643439.1:c.*54C>T	ENSP00000495849.1:n.*54C>T
ENST00000643479.1:n.343C>T
ENST00000643516.1:c.201C>T
ENST00000644151.1:n.1606C>T
ENST00000644218.1:c.314C>T	ENSP00000493574.1:p.Ala105Val
ENST00000644683.1:c.314C>T	ENSP00000494085.1:p.Ala105Val
ENST00000644810.1:c.230-539C>T	ENSP00000495895.1:n.230-539C>T
ENST00000644831.1:n.343C>T
ENST00000644933.1:c.-416C>T	ENSP00000496133.1:n.-416C>T
ENST00000645020.1:n.1342C>T
ENST00000645285.1:c.-416C>T	ENSP00000495058.1:n.-416C>T
ENST00000645331.1:n.336C>T
ENST00000645620.1:c.-358C>T	ENSP00000493657.1:n.-358C>T
ENST00000646777.1:n.343C>T
ENST00000647016.1:n.647C>T
ENST00000647152.1:c.-416C>T	ENSP00000495893.1:n.-416C>T
ENST00000647209.1:c.*183C>T	ENSP00000495558.1:n.*183C>T
ENST00000647346.1:n.1334C>T
ENST00000299427.10:c.314C>T	ENSP00000299427.6:p.Ala105Val
ENST00000428886.6:n.336C>T
ENST00000436873.6:c.314C>T	ENSP00000398136.2:p.Ala105Val
ENST00000528571.5:c.*54C>T	ENSP00000434647.1:n.*54C>T
ENST00000530040.1:n.426C>T
ENST00000533371.5:c.-416C>T	ENSP00000437066.1:n.-416C>T
ENST00000534644.5:n.299C>T
ENST00000611494.4:c.314C>T	ENSP00000484546.1:p.Ala105Val
NM_000391.3:c.314C>T	NP_000382.3:p.Ala105Val
NM_000391.4:c.314C>T MANE Select	NP_000382.3:p.Ala105Val