Canonical Allele Identifier: CA379475108

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616783-G-A
• MyVariant Identifiers: chr11:g.6638014G>A (hg19) ; chr11:g.6616783G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616783G>A , CM000673.2:g.6616783G>A	GRCh38
NC_000011.9:g.6638014G>A , CM000673.1:g.6638014G>A	GRCh37
NC_000011.8:g.6594590G>A	NCBI36
NG_008653.1:g.7679C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.650C>T	ENSP00000507321.1:p.Ala217Val
ENST00000299427.12:c.764C>T MANE Select	ENSP00000299427.6:p.Ala255Val
ENST00000436873.7:c.312+518C>T
ENST00000524788.2:n.1923C>T
ENST00000524903.2:n.2039C>T
ENST00000528807.2:n.420C>T
ENST00000530040.2:n.480-280C>T
ENST00000533371.6:c.35C>T	ENSP00000437066.1:p.Ala12Val
ENST00000642892.1:c.35C>T	ENSP00000494165.1:p.Ala12Val
ENST00000643439.1:c.*504C>T	ENSP00000495849.1:n.*504C>T
ENST00000643479.1:n.793C>T
ENST00000643516.1:c.396-280C>T
ENST00000644151.1:n.2203C>T
ENST00000644218.1:c.764C>T	ENSP00000493574.1:p.Ala255Val
ENST00000644683.1:c.*217C>T	ENSP00000494085.1:n.*217C>T
ENST00000644810.1:c.485C>T	ENSP00000495895.1:p.Ala162Val
ENST00000644831.1:n.940C>T
ENST00000644933.1:c.35C>T	ENSP00000496133.1:p.Ala12Val
ENST00000645020.1:n.2054C>T
ENST00000645285.1:c.35C>T	ENSP00000495058.1:p.Ala12Val
ENST00000645331.1:n.1130C>T
ENST00000645620.1:c.35C>T	ENSP00000493657.1:p.Ala12Val
ENST00000646777.1:n.940C>T
ENST00000647016.1:n.1244C>T
ENST00000647152.1:c.35C>T	ENSP00000495893.1:p.Ala12Val
ENST00000647209.1:c.*633C>T	ENSP00000495558.1:n.*633C>T
ENST00000647346.1:n.1784C>T
ENST00000299427.10:c.764C>T	ENSP00000299427.6:p.Ala255Val
ENST00000436873.6:c.451-280C>T	ENSP00000398136.2:n.451-280C>T
ENST00000524788.1:n.464C>T
ENST00000528807.1:n.314C>T
ENST00000533371.5:c.35C>T	ENSP00000437066.1:p.Ala12Val
ENST00000611494.4:c.764C>T	ENSP00000484546.1:p.Ala255Val
NM_000391.3:c.764C>T	NP_000382.3:p.Ala255Val
NM_000391.4:c.764C>T MANE Select	NP_000382.3:p.Ala255Val