Canonical Allele Identifier: CA679347903

Gene: TPP1

Linked Data

• dbSNP Id: rs1414177214
• gnomAD v3: 11-6615076-T-G
• gnomAD v4: 11-6615076-T-G
• MyVariant Identifiers: chr11:g.6636307T>G (hg19) ; chr11:g.6615076T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615076T>G , CM000673.2:g.6615076T>G	GRCh38
NC_000011.9:g.6636307T>G , CM000673.1:g.6636307T>G	GRCh37
NC_000011.8:g.6592883T>G	NCBI36
NG_008653.1:g.9386A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1312-85A>C	ENSP00000507321.1:n.1312-85A>C
ENST00000299427.12:c.1426-85A>C MANE Select	ENSP00000299427.6:n.1426-85A>C
ENST00000524611.2:n.286-85A>C
ENST00000524924.2:n.546-85A>C
ENST00000533371.6:c.697-85A>C	ENSP00000437066.1:n.697-85A>C
ENST00000642892.1:c.697-85A>C	ENSP00000494165.1:n.697-85A>C
ENST00000643342.1:c.499-85A>C
ENST00000643439.1:c.*1166-85A>C	ENSP00000495849.1:n.*1166-85A>C
ENST00000643479.1:n.1612-85A>C
ENST00000643516.1:c.935-85A>C
ENST00000644218.1:c.1237-85A>C	ENSP00000493574.1:n.1237-85A>C
ENST00000644683.1:c.*879-85A>C	ENSP00000494085.1:n.*879-85A>C
ENST00000644810.1:c.1147-85A>C	ENSP00000495895.1:n.1147-85A>C
ENST00000644831.1:n.1602-85A>C
ENST00000644933.1:c.*292-85A>C	ENSP00000496133.1:n.*292-85A>C
ENST00000645285.1:c.*292-85A>C	ENSP00000495058.1:n.*292-85A>C
ENST00000645331.1:n.2631-85A>C
ENST00000645620.1:c.697-85A>C	ENSP00000493657.1:n.697-85A>C
ENST00000646691.1:n.1313-85A>C
ENST00000646777.1:n.1759-85A>C
ENST00000647016.1:n.1906-85A>C
ENST00000647152.1:c.697-85A>C	ENSP00000495893.1:n.697-85A>C
ENST00000647209.1:c.*1295-85A>C	ENSP00000495558.1:n.*1295-85A>C
ENST00000647346.1:n.2446-85A>C
ENST00000299427.10:c.1426-85A>C	ENSP00000299427.6:n.1426-85A>C
ENST00000524611.1:n.304-85A>C
ENST00000533371.5:c.697-85A>C	ENSP00000437066.1:n.697-85A>C
ENST00000611494.4:c.1426-85A>C	ENSP00000484546.1:n.1426-85A>C
NM_000391.3:c.1426-85A>C	NP_000382.3:n.1426-85A>C
NM_000391.4:c.1426-85A>C MANE Select	NP_000382.3:n.1426-85A>C