Canonical Allele Identifier: CA379475316

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616982-C-G
• MyVariant Identifiers: chr11:g.6638213C>G (hg19) ; chr11:g.6616982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616982C>G , CM000673.2:g.6616982C>G	GRCh38
NC_000011.9:g.6638213C>G , CM000673.1:g.6638213C>G	GRCh37
NC_000011.8:g.6594789C>G	NCBI36
NG_008653.1:g.7480G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.566G>C	ENSP00000507321.1:p.Cys189Ser
ENST00000299427.12:c.680G>C MANE Select	ENSP00000299427.6:p.Cys227Ser
ENST00000436873.7:c.312+319G>C
ENST00000524788.2:n.1839G>C
ENST00000524903.2:n.1955G>C
ENST00000528807.2:n.336G>C
ENST00000530040.2:n.479+377G>C
ENST00000533371.6:c.-50G>C	ENSP00000437066.1:n.-50G>C
ENST00000534644.6:n.628G>C
ENST00000642892.1:c.-50G>C	ENSP00000494165.1:n.-50G>C
ENST00000643439.1:c.*420G>C	ENSP00000495849.1:n.*420G>C
ENST00000643479.1:n.709G>C
ENST00000643516.1:c.395+319G>C
ENST00000644151.1:n.2119G>C
ENST00000644218.1:c.680G>C	ENSP00000493574.1:p.Cys227Ser
ENST00000644683.1:c.*133G>C	ENSP00000494085.1:n.*133G>C
ENST00000644810.1:c.401G>C	ENSP00000495895.1:p.Cys134Ser
ENST00000644831.1:n.856G>C
ENST00000644933.1:c.-50G>C	ENSP00000496133.1:n.-50G>C
ENST00000645020.1:n.1855G>C
ENST00000645285.1:c.-50G>C	ENSP00000495058.1:n.-50G>C
ENST00000645331.1:n.1046G>C
ENST00000645620.1:c.-50G>C	ENSP00000493657.1:n.-50G>C
ENST00000646777.1:n.856G>C
ENST00000647016.1:n.1160G>C
ENST00000647152.1:c.-50G>C	ENSP00000495893.1:n.-50G>C
ENST00000647209.1:c.*549G>C	ENSP00000495558.1:n.*549G>C
ENST00000647346.1:n.1700G>C
ENST00000299427.10:c.680G>C	ENSP00000299427.6:p.Cys227Ser
ENST00000436873.6:c.450+377G>C	ENSP00000398136.2:n.450+377G>C
ENST00000524788.1:n.380G>C
ENST00000528807.1:n.230G>C
ENST00000533371.5:c.-50G>C	ENSP00000437066.1:n.-50G>C
ENST00000611494.4:c.680G>C	ENSP00000484546.1:p.Cys227Ser
NM_000391.3:c.680G>C	NP_000382.3:p.Cys227Ser
NM_000391.4:c.680G>C MANE Select	NP_000382.3:p.Cys227Ser