Canonical Allele Identifier: CA379474897

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616685-A-C
• MyVariant Identifiers: chr11:g.6637916A>C (hg19) ; chr11:g.6616685A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616685A>C , CM000673.2:g.6616685A>C	GRCh38
NC_000011.9:g.6637916A>C , CM000673.1:g.6637916A>C	GRCh37
NC_000011.8:g.6594492A>C	NCBI36
NG_008653.1:g.7777T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.748T>G	ENSP00000507321.1:p.Ser250Ala
ENST00000299427.12:c.862T>G MANE Select	ENSP00000299427.6:p.Ser288Ala
ENST00000436873.7:c.313-611T>G
ENST00000524788.2:n.2021T>G
ENST00000524903.2:n.2137T>G
ENST00000528807.2:n.518T>G
ENST00000530040.2:n.480-182T>G
ENST00000533371.6:c.133T>G	ENSP00000437066.1:p.Ser45Ala
ENST00000642892.1:c.133T>G	ENSP00000494165.1:p.Ser45Ala
ENST00000643439.1:c.*602T>G	ENSP00000495849.1:n.*602T>G
ENST00000643479.1:n.891T>G
ENST00000643516.1:c.396-182T>G
ENST00000644151.1:n.2301T>G
ENST00000644218.1:c.862T>G	ENSP00000493574.1:p.Ser288Ala
ENST00000644683.1:c.*315T>G	ENSP00000494085.1:n.*315T>G
ENST00000644810.1:c.583T>G	ENSP00000495895.1:p.Ser195Ala
ENST00000644831.1:n.1038T>G
ENST00000644933.1:c.133T>G	ENSP00000496133.1:p.Ser45Ala
ENST00000645020.1:n.2152T>G
ENST00000645285.1:c.133T>G	ENSP00000495058.1:p.Ser45Ala
ENST00000645331.1:n.1228T>G
ENST00000645620.1:c.133T>G	ENSP00000493657.1:p.Ser45Ala
ENST00000646777.1:n.1038T>G
ENST00000647016.1:n.1342T>G
ENST00000647152.1:c.133T>G	ENSP00000495893.1:p.Ser45Ala
ENST00000647209.1:c.*731T>G	ENSP00000495558.1:n.*731T>G
ENST00000647346.1:n.1882T>G
ENST00000299427.10:c.862T>G	ENSP00000299427.6:p.Ser288Ala
ENST00000436873.6:c.451-182T>G	ENSP00000398136.2:n.451-182T>G
ENST00000528807.1:n.412T>G
ENST00000533371.5:c.133T>G	ENSP00000437066.1:p.Ser45Ala
ENST00000611494.4:c.862T>G	ENSP00000484546.1:p.Ser288Ala
NM_000391.3:c.862T>G	NP_000382.3:p.Ser288Ala
NM_000391.4:c.862T>G MANE Select	NP_000382.3:p.Ser288Ala