Canonical Allele Identifier: CA379474836

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1726649
• ClinVar RCV Id: RCV002310333
• MyVariant Identifiers: chr11:g.6637902G>T (hg19) ; chr11:g.6616671G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616671G>T , CM000673.2:g.6616671G>T	GRCh38
NC_000011.9:g.6637902G>T , CM000673.1:g.6637902G>T	GRCh37
NC_000011.8:g.6594478G>T	NCBI36
NG_008653.1:g.7791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.762C>A	ENSP00000507321.1:p.Tyr254Ter
ENST00000299427.12:c.876C>A MANE Select	ENSP00000299427.6:p.Tyr292Ter
ENST00000436873.7:c.313-597C>A
ENST00000524788.2:n.2035C>A
ENST00000524903.2:n.2151C>A
ENST00000528807.2:n.532C>A
ENST00000530040.2:n.480-168C>A
ENST00000533371.6:c.147C>A	ENSP00000437066.1:p.Tyr49Ter
ENST00000642892.1:c.147C>A	ENSP00000494165.1:p.Tyr49Ter
ENST00000643439.1:c.*616C>A	ENSP00000495849.1:n.*616C>A
ENST00000643479.1:n.905C>A
ENST00000643516.1:c.396-168C>A
ENST00000644151.1:n.2315C>A
ENST00000644218.1:c.876C>A	ENSP00000493574.1:p.Tyr292Ter
ENST00000644683.1:c.*329C>A	ENSP00000494085.1:n.*329C>A
ENST00000644810.1:c.597C>A	ENSP00000495895.1:p.Tyr199Ter
ENST00000644831.1:n.1052C>A
ENST00000644933.1:c.147C>A	ENSP00000496133.1:p.Tyr49Ter
ENST00000645020.1:n.2166C>A
ENST00000645285.1:c.147C>A	ENSP00000495058.1:p.Tyr49Ter
ENST00000645331.1:n.1242C>A
ENST00000645620.1:c.147C>A	ENSP00000493657.1:p.Tyr49Ter
ENST00000646777.1:n.1052C>A
ENST00000647016.1:n.1356C>A
ENST00000647152.1:c.147C>A	ENSP00000495893.1:p.Tyr49Ter
ENST00000647209.1:c.*745C>A	ENSP00000495558.1:n.*745C>A
ENST00000647346.1:n.1896C>A
ENST00000299427.10:c.876C>A	ENSP00000299427.6:p.Tyr292Ter
ENST00000436873.6:c.451-168C>A	ENSP00000398136.2:n.451-168C>A
ENST00000528807.1:n.426C>A
ENST00000533371.5:c.147C>A	ENSP00000437066.1:p.Tyr49Ter
ENST00000611494.4:c.876C>A	ENSP00000484546.1:p.Tyr292Ter
NM_000391.3:c.876C>A	NP_000382.3:p.Tyr292Ter
NM_000391.4:c.876C>A MANE Select	NP_000382.3:p.Tyr292Ter