Canonical Allele Identifier: CA379475307

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616979-G-A
• MyVariant Identifiers: chr11:g.6638210G>A (hg19) ; chr11:g.6616979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616979G>A , CM000673.2:g.6616979G>A	GRCh38
NC_000011.9:g.6638210G>A , CM000673.1:g.6638210G>A	GRCh37
NC_000011.8:g.6594786G>A	NCBI36
NG_008653.1:g.7483C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.569C>T	ENSP00000507321.1:p.Ala190Val
ENST00000299427.12:c.683C>T MANE Select	ENSP00000299427.6:p.Ala228Val
ENST00000436873.7:c.312+322C>T
ENST00000524788.2:n.1842C>T
ENST00000524903.2:n.1958C>T
ENST00000528807.2:n.339C>T
ENST00000530040.2:n.479+380C>T
ENST00000533371.6:c.-47C>T	ENSP00000437066.1:n.-47C>T
ENST00000534644.6:n.631C>T
ENST00000642892.1:c.-47C>T	ENSP00000494165.1:n.-47C>T
ENST00000643439.1:c.*423C>T	ENSP00000495849.1:n.*423C>T
ENST00000643479.1:n.712C>T
ENST00000643516.1:c.395+322C>T
ENST00000644151.1:n.2122C>T
ENST00000644218.1:c.683C>T	ENSP00000493574.1:p.Ala228Val
ENST00000644683.1:c.*136C>T	ENSP00000494085.1:n.*136C>T
ENST00000644810.1:c.404C>T	ENSP00000495895.1:p.Ala135Val
ENST00000644831.1:n.859C>T
ENST00000644933.1:c.-47C>T	ENSP00000496133.1:n.-47C>T
ENST00000645020.1:n.1858C>T
ENST00000645285.1:c.-47C>T	ENSP00000495058.1:n.-47C>T
ENST00000645331.1:n.1049C>T
ENST00000645620.1:c.-47C>T	ENSP00000493657.1:n.-47C>T
ENST00000646777.1:n.859C>T
ENST00000647016.1:n.1163C>T
ENST00000647152.1:c.-47C>T	ENSP00000495893.1:n.-47C>T
ENST00000647209.1:c.*552C>T	ENSP00000495558.1:n.*552C>T
ENST00000647346.1:n.1703C>T
ENST00000299427.10:c.683C>T	ENSP00000299427.6:p.Ala228Val
ENST00000436873.6:c.450+380C>T	ENSP00000398136.2:n.450+380C>T
ENST00000524788.1:n.383C>T
ENST00000528807.1:n.233C>T
ENST00000533371.5:c.-47C>T	ENSP00000437066.1:n.-47C>T
ENST00000611494.4:c.683C>T	ENSP00000484546.1:p.Ala228Val
NM_000391.3:c.683C>T	NP_000382.3:p.Ala228Val
NM_000391.4:c.683C>T MANE Select	NP_000382.3:p.Ala228Val