Canonical Allele Identifier: CA379475155

Gene: TPP1

Linked Data

• dbSNP Id: rs1401349380
• MyVariant Identifiers: chr11:g.6638033C>T (hg19) ; chr11:g.6616802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616802C>T , CM000673.2:g.6616802C>T	GRCh38
NC_000011.9:g.6638033C>T , CM000673.1:g.6638033C>T	GRCh37
NC_000011.8:g.6594609C>T	NCBI36
NG_008653.1:g.7660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.631G>A	ENSP00000507321.1:p.Gly211Ser
ENST00000299427.12:c.745G>A MANE Select	ENSP00000299427.6:p.Gly249Ser
ENST00000436873.7:c.312+499G>A
ENST00000524788.2:n.1904G>A
ENST00000524903.2:n.2020G>A
ENST00000528807.2:n.401G>A
ENST00000530040.2:n.480-299G>A
ENST00000533371.6:c.16G>A	ENSP00000437066.1:p.Gly6Ser
ENST00000642892.1:c.16G>A	ENSP00000494165.1:p.Gly6Ser
ENST00000643439.1:c.*485G>A	ENSP00000495849.1:n.*485G>A
ENST00000643479.1:n.774G>A
ENST00000643516.1:c.396-299G>A
ENST00000644151.1:n.2184G>A
ENST00000644218.1:c.745G>A	ENSP00000493574.1:p.Gly249Ser
ENST00000644683.1:c.*198G>A	ENSP00000494085.1:n.*198G>A
ENST00000644810.1:c.466G>A	ENSP00000495895.1:p.Gly156Ser
ENST00000644831.1:n.921G>A
ENST00000644933.1:c.16G>A	ENSP00000496133.1:p.Gly6Ser
ENST00000645020.1:n.2035G>A
ENST00000645285.1:c.16G>A	ENSP00000495058.1:p.Gly6Ser
ENST00000645331.1:n.1111G>A
ENST00000645620.1:c.16G>A	ENSP00000493657.1:p.Gly6Ser
ENST00000646777.1:n.921G>A
ENST00000647016.1:n.1225G>A
ENST00000647152.1:c.16G>A	ENSP00000495893.1:p.Gly6Ser
ENST00000647209.1:c.*614G>A	ENSP00000495558.1:n.*614G>A
ENST00000647346.1:n.1765G>A
ENST00000299427.10:c.745G>A	ENSP00000299427.6:p.Gly249Ser
ENST00000436873.6:c.451-299G>A	ENSP00000398136.2:n.451-299G>A
ENST00000524788.1:n.445G>A
ENST00000528807.1:n.295G>A
ENST00000533371.5:c.16G>A	ENSP00000437066.1:p.Gly6Ser
ENST00000611494.4:c.745G>A	ENSP00000484546.1:p.Gly249Ser
NM_000391.3:c.745G>A	NP_000382.3:p.Gly249Ser
NM_000391.4:c.745G>A MANE Select	NP_000382.3:p.Gly249Ser