Canonical Allele Identifier: CA379474725

Gene: TPP1

Linked Data

• dbSNP Id: rs1230048785
• gnomAD v2: 11-6637729-G-A
• MyVariant Identifiers: chr11:g.6637729G>A (hg19) ; chr11:g.6616498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616498G>A , CM000673.2:g.6616498G>A	GRCh38
NC_000011.9:g.6637729G>A , CM000673.1:g.6637729G>A	GRCh37
NC_000011.8:g.6594305G>A	NCBI36
NG_008653.1:g.7964C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.778C>T	ENSP00000507321.1:p.His260Tyr
ENST00000299427.12:c.892C>T MANE Select	ENSP00000299427.6:p.His298Tyr
ENST00000436873.7:c.313-424C>T
ENST00000530040.2:n.485C>T
ENST00000533371.6:c.163C>T	ENSP00000437066.1:p.His55Tyr
ENST00000642892.1:c.163C>T	ENSP00000494165.1:p.His55Tyr
ENST00000643439.1:c.*632C>T	ENSP00000495849.1:n.*632C>T
ENST00000643479.1:n.1078C>T
ENST00000643516.1:c.401C>T
ENST00000644218.1:c.886+163C>T	ENSP00000493574.1:n.886+163C>T
ENST00000644683.1:c.*345C>T	ENSP00000494085.1:n.*345C>T
ENST00000644810.1:c.613C>T	ENSP00000495895.1:p.His205Tyr
ENST00000644831.1:n.1068C>T
ENST00000644933.1:c.163C>T	ENSP00000496133.1:p.His55Tyr
ENST00000645285.1:c.157+163C>T	ENSP00000495058.1:n.157+163C>T
ENST00000645331.1:n.1415C>T
ENST00000645620.1:c.163C>T	ENSP00000493657.1:p.His55Tyr
ENST00000646777.1:n.1225C>T
ENST00000647016.1:n.1372C>T
ENST00000647152.1:c.163C>T	ENSP00000495893.1:p.His55Tyr
ENST00000647209.1:c.*761C>T	ENSP00000495558.1:n.*761C>T
ENST00000647346.1:n.1912C>T
ENST00000299427.10:c.892C>T	ENSP00000299427.6:p.His298Tyr
ENST00000436873.6:c.456C>T	ENSP00000398136.2:p.Gly152=
ENST00000533371.5:c.163C>T	ENSP00000437066.1:p.His55Tyr
ENST00000611494.4:c.892C>T	ENSP00000484546.1:p.His298Tyr
NM_000391.3:c.892C>T	NP_000382.3:p.His298Tyr
NM_000391.4:c.892C>T MANE Select	NP_000382.3:p.His298Tyr