Canonical Allele Identifier: CA217322390

Gene: TPP1

Linked Data

• dbSNP Id: rs893758617
• gnomAD v3: 11-6616242-G-A
• gnomAD v4: 11-6616242-G-A
• MyVariant Identifiers: chr11:g.6637473G>A (hg19) ; chr11:g.6616242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616242G>A , CM000673.2:g.6616242G>A	GRCh38
NC_000011.9:g.6637473G>A , CM000673.1:g.6637473G>A	GRCh37
NC_000011.8:g.6594049G>A	NCBI36
NG_008653.1:g.8220C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.961+73C>T	ENSP00000507321.1:n.961+73C>T
ENST00000299427.12:c.1075+73C>T MANE Select	ENSP00000299427.6:n.1075+73C>T
ENST00000436873.7:c.313-168C>T
ENST00000524924.2:n.28C>T
ENST00000533371.6:c.346+73C>T	ENSP00000437066.1:n.346+73C>T
ENST00000642892.1:c.346+73C>T	ENSP00000494165.1:n.346+73C>T
ENST00000643342.1:c.165+73C>T
ENST00000643439.1:c.*815+73C>T	ENSP00000495849.1:n.*815+73C>T
ENST00000643479.1:n.1261+73C>T
ENST00000643516.1:c.584+73C>T
ENST00000644218.1:c.887-168C>T	ENSP00000493574.1:n.887-168C>T
ENST00000644683.1:c.*528+73C>T	ENSP00000494085.1:n.*528+73C>T
ENST00000644810.1:c.796+73C>T	ENSP00000495895.1:n.796+73C>T
ENST00000644831.1:n.1251+73C>T
ENST00000644933.1:c.346+73C>T	ENSP00000496133.1:n.346+73C>T
ENST00000645285.1:c.158-168C>T	ENSP00000495058.1:n.158-168C>T
ENST00000645331.1:n.1671C>T
ENST00000645620.1:c.346+73C>T	ENSP00000493657.1:n.346+73C>T
ENST00000646691.1:n.241C>T
ENST00000646777.1:n.1408+73C>T
ENST00000647016.1:n.1555+73C>T
ENST00000647152.1:c.346+73C>T	ENSP00000495893.1:n.346+73C>T
ENST00000647209.1:c.*944+73C>T	ENSP00000495558.1:n.*944+73C>T
ENST00000647346.1:n.2095+73C>T
ENST00000299427.10:c.1075+73C>T	ENSP00000299427.6:n.1075+73C>T
ENST00000533371.5:c.346+73C>T	ENSP00000437066.1:n.346+73C>T
ENST00000611494.4:c.1075+73C>T	ENSP00000484546.1:n.1075+73C>T
NM_000391.3:c.1075+73C>T	NP_000382.3:n.1075+73C>T
NM_000391.4:c.1075+73C>T MANE Select	NP_000382.3:n.1075+73C>T