Canonical Allele Identifier: CA472771651

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615478-A-G
• MyVariant Identifiers: chr11:g.6636709A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615478A>G , CM000673.2:g.6615478A>G	GRCh38
NC_000011.9:g.6636709A>G , CM000673.1:g.6636709A>G	GRCh37
NC_000011.8:g.6593285A>G	NCBI36
NG_008653.1:g.8984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1116T>C	ENSP00000507321.1:p.Gly372=
ENST00000299427.12:c.1230T>C MANE Select	ENSP00000299427.6:p.Gly410=
ENST00000436873.7:c.467T>C
ENST00000524924.2:n.350T>C
ENST00000533371.6:c.501T>C	ENSP00000437066.1:p.Gly167=
ENST00000642892.1:c.501T>C	ENSP00000494165.1:p.Gly167=
ENST00000643342.1:c.303T>C
ENST00000643439.1:c.*970T>C	ENSP00000495849.1:n.*970T>C
ENST00000643479.1:n.1416T>C
ENST00000643516.1:c.739T>C
ENST00000644218.1:c.1041T>C	ENSP00000493574.1:p.Gly347=
ENST00000644683.1:c.*683T>C	ENSP00000494085.1:n.*683T>C
ENST00000644810.1:c.951T>C	ENSP00000495895.1:p.Gly317=
ENST00000644831.1:n.1406T>C
ENST00000644933.1:c.*96T>C	ENSP00000496133.1:n.*96T>C
ENST00000645285.1:c.*96T>C	ENSP00000495058.1:n.*96T>C
ENST00000645331.1:n.2435T>C
ENST00000645620.1:c.501T>C	ENSP00000493657.1:p.Gly167=
ENST00000646691.1:n.1005T>C
ENST00000646777.1:n.1563T>C
ENST00000647016.1:n.1710T>C
ENST00000647152.1:c.501T>C	ENSP00000495893.1:p.Gly167=
ENST00000647209.1:c.*1099T>C	ENSP00000495558.1:n.*1099T>C
ENST00000647346.1:n.2250T>C
ENST00000299427.10:c.1230T>C	ENSP00000299427.6:p.Gly410=
ENST00000524924.1:n.185T>C
ENST00000532191.1:n.283T>C
ENST00000533371.5:c.501T>C	ENSP00000437066.1:p.Gly167=
ENST00000611494.4:c.1230T>C	ENSP00000484546.1:p.Gly410=
NM_000391.3:c.1230T>C	NP_000382.3:p.Gly410=
NM_000391.4:c.1230T>C MANE Select	NP_000382.3:p.Gly410=