Canonical Allele Identifier: CA472922783

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616782-T-C
• MyVariant Identifiers: chr11:g.6638013T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616782T>C , CM000673.2:g.6616782T>C	GRCh38
NC_000011.9:g.6638013T>C , CM000673.1:g.6638013T>C	GRCh37
NC_000011.8:g.6594589T>C	NCBI36
NG_008653.1:g.7680A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.651A>G	ENSP00000507321.1:p.Ala217=
ENST00000299427.12:c.765A>G MANE Select	ENSP00000299427.6:p.Ala255=
ENST00000436873.7:c.312+519A>G
ENST00000524788.2:n.1924A>G
ENST00000524903.2:n.2040A>G
ENST00000528807.2:n.421A>G
ENST00000530040.2:n.480-279A>G
ENST00000533371.6:c.36A>G	ENSP00000437066.1:p.Ala12=
ENST00000642892.1:c.36A>G	ENSP00000494165.1:p.Ala12=
ENST00000643439.1:c.*505A>G	ENSP00000495849.1:n.*505A>G
ENST00000643479.1:n.794A>G
ENST00000643516.1:c.396-279A>G
ENST00000644151.1:n.2204A>G
ENST00000644218.1:c.765A>G	ENSP00000493574.1:p.Ala255=
ENST00000644683.1:c.*218A>G	ENSP00000494085.1:n.*218A>G
ENST00000644810.1:c.486A>G	ENSP00000495895.1:p.Ala162=
ENST00000644831.1:n.941A>G
ENST00000644933.1:c.36A>G	ENSP00000496133.1:p.Ala12=
ENST00000645020.1:n.2055A>G
ENST00000645285.1:c.36A>G	ENSP00000495058.1:p.Ala12=
ENST00000645331.1:n.1131A>G
ENST00000645620.1:c.36A>G	ENSP00000493657.1:p.Ala12=
ENST00000646777.1:n.941A>G
ENST00000647016.1:n.1245A>G
ENST00000647152.1:c.36A>G	ENSP00000495893.1:p.Ala12=
ENST00000647209.1:c.*634A>G	ENSP00000495558.1:n.*634A>G
ENST00000647346.1:n.1785A>G
ENST00000299427.10:c.765A>G	ENSP00000299427.6:p.Ala255=
ENST00000436873.6:c.451-279A>G	ENSP00000398136.2:n.451-279A>G
ENST00000524788.1:n.465A>G
ENST00000528807.1:n.315A>G
ENST00000533371.5:c.36A>G	ENSP00000437066.1:p.Ala12=
ENST00000611494.4:c.765A>G	ENSP00000484546.1:p.Ala255=
NM_000391.3:c.765A>G	NP_000382.3:p.Ala255=
NM_000391.4:c.765A>G MANE Select	NP_000382.3:p.Ala255=