Canonical Allele Identifier: CA379475321

Gene: TPP1

Linked Data

• dbSNP Id: rs1855595839
• gnomAD v4: 11-6616985-G-A
• MyVariant Identifiers: chr11:g.6638216G>A (hg19) ; chr11:g.6616985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616985G>A , CM000673.2:g.6616985G>A	GRCh38
NC_000011.9:g.6638216G>A , CM000673.1:g.6638216G>A	GRCh37
NC_000011.8:g.6594792G>A	NCBI36
NG_008653.1:g.7477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.563C>T	ENSP00000507321.1:p.Ala188Val
ENST00000299427.12:c.677C>T MANE Select	ENSP00000299427.6:p.Ala226Val
ENST00000436873.7:c.312+316C>T
ENST00000524788.2:n.1836C>T
ENST00000524903.2:n.1952C>T
ENST00000528807.2:n.333C>T
ENST00000530040.2:n.479+374C>T
ENST00000533371.6:c.-53C>T	ENSP00000437066.1:n.-53C>T
ENST00000534644.6:n.625C>T
ENST00000642892.1:c.-53C>T	ENSP00000494165.1:n.-53C>T
ENST00000643439.1:c.*417C>T	ENSP00000495849.1:n.*417C>T
ENST00000643479.1:n.706C>T
ENST00000643516.1:c.395+316C>T
ENST00000644151.1:n.2116C>T
ENST00000644218.1:c.677C>T	ENSP00000493574.1:p.Ala226Val
ENST00000644683.1:c.*130C>T	ENSP00000494085.1:n.*130C>T
ENST00000644810.1:c.398C>T	ENSP00000495895.1:p.Ala133Val
ENST00000644831.1:n.853C>T
ENST00000644933.1:c.-53C>T	ENSP00000496133.1:n.-53C>T
ENST00000645020.1:n.1852C>T
ENST00000645285.1:c.-53C>T	ENSP00000495058.1:n.-53C>T
ENST00000645331.1:n.1043C>T
ENST00000645620.1:c.-53C>T	ENSP00000493657.1:n.-53C>T
ENST00000646777.1:n.853C>T
ENST00000647016.1:n.1157C>T
ENST00000647152.1:c.-53C>T	ENSP00000495893.1:n.-53C>T
ENST00000647209.1:c.*546C>T	ENSP00000495558.1:n.*546C>T
ENST00000647346.1:n.1697C>T
ENST00000299427.10:c.677C>T	ENSP00000299427.6:p.Ala226Val
ENST00000436873.6:c.450+374C>T	ENSP00000398136.2:n.450+374C>T
ENST00000524788.1:n.377C>T
ENST00000528571.5:c.*417C>T	ENSP00000434647.1:n.*417C>T
ENST00000528807.1:n.227C>T
ENST00000533371.5:c.-53C>T	ENSP00000437066.1:n.-53C>T
ENST00000611494.4:c.677C>T	ENSP00000484546.1:p.Ala226Val
NM_000391.3:c.677C>T	NP_000382.3:p.Ala226Val
NM_000391.4:c.677C>T MANE Select	NP_000382.3:p.Ala226Val