Canonical Allele Identifier: CA5858965

Gene: TPP1

Linked Data

• dbSNP Id: rs751902393
• ExAC: 11:6638689 C / G
• gnomAD v3: 11-6617458-C-G
• gnomAD v4: 11-6617458-C-G
• MyVariant Identifiers: chr11:g.6638689C>G (hg19) ; chr11:g.6617458C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617458C>G , CM000673.2:g.6617458C>G	GRCh38
NC_000011.9:g.6638689C>G , CM000673.1:g.6638689C>G	GRCh37
NC_000011.8:g.6595265C>G	NCBI36
NG_008653.1:g.7004G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.267-30G>C	ENSP00000507321.1:n.267-30G>C
ENST00000299427.12:c.381-30G>C MANE Select	ENSP00000299427.6:n.381-30G>C
ENST00000428886.7:n.469-30G>C
ENST00000436873.7:c.185-30G>C
ENST00000524788.2:n.1393-30G>C
ENST00000524903.2:n.1509-30G>C
ENST00000528571.6:c.*121-30G>C	ENSP00000434647.1:n.*121-30G>C
ENST00000528807.2:n.7G>C
ENST00000530040.2:n.410-30G>C
ENST00000533371.6:c.-349-30G>C	ENSP00000437066.1:n.-349-30G>C
ENST00000534644.6:n.382-30G>C
ENST00000642892.1:c.-296-30G>C	ENSP00000494165.1:n.-296-30G>C
ENST00000643439.1:c.*121-30G>C	ENSP00000495849.1:n.*121-30G>C
ENST00000643479.1:n.410-30G>C
ENST00000643516.1:c.268-30G>C
ENST00000644151.1:n.1673-30G>C
ENST00000644218.1:c.381-30G>C	ENSP00000493574.1:n.381-30G>C
ENST00000644683.1:c.381-30G>C	ENSP00000494085.1:n.381-30G>C
ENST00000644810.1:c.230-305G>C	ENSP00000495895.1:n.230-305G>C
ENST00000644831.1:n.410-30G>C
ENST00000644933.1:c.-349-30G>C	ENSP00000496133.1:n.-349-30G>C
ENST00000645020.1:n.1409-30G>C
ENST00000645285.1:c.-349-30G>C	ENSP00000495058.1:n.-349-30G>C
ENST00000645331.1:n.570G>C
ENST00000645620.1:c.-291-30G>C	ENSP00000493657.1:n.-291-30G>C
ENST00000646777.1:n.410-30G>C
ENST00000647016.1:n.714-30G>C
ENST00000647152.1:c.-349-30G>C	ENSP00000495893.1:n.-349-30G>C
ENST00000647209.1:c.*250-30G>C	ENSP00000495558.1:n.*250-30G>C
ENST00000647346.1:n.1401-30G>C
ENST00000299427.10:c.381-30G>C	ENSP00000299427.6:n.381-30G>C
ENST00000428886.6:n.403-30G>C
ENST00000436873.6:c.381-30G>C	ENSP00000398136.2:n.381-30G>C
ENST00000528571.5:c.*121-30G>C	ENSP00000434647.1:n.*121-30G>C
ENST00000530040.1:n.493-30G>C
ENST00000533371.5:c.-349-30G>C	ENSP00000437066.1:n.-349-30G>C
ENST00000534644.5:n.366-30G>C
ENST00000611494.4:c.381-30G>C	ENSP00000484546.1:n.381-30G>C
NM_000391.3:c.381-30G>C	NP_000382.3:n.381-30G>C
NM_000391.4:c.381-30G>C MANE Select	NP_000382.3:n.381-30G>C