Canonical Allele Identifier: CA472922800

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616791-T-G
• MyVariant Identifiers: chr11:g.6638022T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616791T>G , CM000673.2:g.6616791T>G	GRCh38
NC_000011.9:g.6638022T>G , CM000673.1:g.6638022T>G	GRCh37
NC_000011.8:g.6594598T>G	NCBI36
NG_008653.1:g.7671A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.642A>C	ENSP00000507321.1:p.Ala214=
ENST00000299427.12:c.756A>C MANE Select	ENSP00000299427.6:p.Ala252=
ENST00000436873.7:c.312+510A>C
ENST00000524788.2:n.1915A>C
ENST00000524903.2:n.2031A>C
ENST00000528807.2:n.412A>C
ENST00000530040.2:n.480-288A>C
ENST00000533371.6:c.27A>C	ENSP00000437066.1:p.Ala9=
ENST00000642892.1:c.27A>C	ENSP00000494165.1:p.Ala9=
ENST00000643439.1:c.*496A>C	ENSP00000495849.1:n.*496A>C
ENST00000643479.1:n.785A>C
ENST00000643516.1:c.396-288A>C
ENST00000644151.1:n.2195A>C
ENST00000644218.1:c.756A>C	ENSP00000493574.1:p.Ala252=
ENST00000644683.1:c.*209A>C	ENSP00000494085.1:n.*209A>C
ENST00000644810.1:c.477A>C	ENSP00000495895.1:p.Ala159=
ENST00000644831.1:n.932A>C
ENST00000644933.1:c.27A>C	ENSP00000496133.1:p.Ala9=
ENST00000645020.1:n.2046A>C
ENST00000645285.1:c.27A>C	ENSP00000495058.1:p.Ala9=
ENST00000645331.1:n.1122A>C
ENST00000645620.1:c.27A>C	ENSP00000493657.1:p.Ala9=
ENST00000646777.1:n.932A>C
ENST00000647016.1:n.1236A>C
ENST00000647152.1:c.27A>C	ENSP00000495893.1:p.Ala9=
ENST00000647209.1:c.*625A>C	ENSP00000495558.1:n.*625A>C
ENST00000647346.1:n.1776A>C
ENST00000299427.10:c.756A>C	ENSP00000299427.6:p.Ala252=
ENST00000436873.6:c.451-288A>C	ENSP00000398136.2:n.451-288A>C
ENST00000524788.1:n.456A>C
ENST00000528807.1:n.306A>C
ENST00000533371.5:c.27A>C	ENSP00000437066.1:p.Ala9=
ENST00000611494.4:c.756A>C	ENSP00000484546.1:p.Ala252=
NM_000391.3:c.756A>C	NP_000382.3:p.Ala252=
NM_000391.4:c.756A>C MANE Select	NP_000382.3:p.Ala252=