Canonical Allele Identifier: CA379475913

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617376-G-A
• MyVariant Identifiers: chr11:g.6638607G>A (hg19) ; chr11:g.6617376G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617376G>A , CM000673.2:g.6617376G>A	GRCh38
NC_000011.9:g.6638607G>A , CM000673.1:g.6638607G>A	GRCh37
NC_000011.8:g.6595183G>A	NCBI36
NG_008653.1:g.7086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.319C>T	ENSP00000507321.1:p.Pro107Ser
ENST00000299427.12:c.433C>T MANE Select	ENSP00000299427.6:p.Pro145Ser
ENST00000428886.7:n.521C>T
ENST00000436873.7:c.237C>T
ENST00000524788.2:n.1445C>T
ENST00000524903.2:n.1561C>T
ENST00000528571.6:c.*173C>T	ENSP00000434647.1:n.*173C>T
ENST00000528807.2:n.89C>T
ENST00000530040.2:n.462C>T
ENST00000533371.6:c.-297C>T	ENSP00000437066.1:n.-297C>T
ENST00000534644.6:n.434C>T
ENST00000642892.1:c.-244C>T	ENSP00000494165.1:n.-244C>T
ENST00000643439.1:c.*173C>T	ENSP00000495849.1:n.*173C>T
ENST00000643479.1:n.462C>T
ENST00000643516.1:c.320C>T
ENST00000644151.1:n.1725C>T
ENST00000644218.1:c.433C>T	ENSP00000493574.1:p.Pro145Ser
ENST00000644683.1:c.433C>T	ENSP00000494085.1:p.Pro145Ser
ENST00000644810.1:c.230-223C>T	ENSP00000495895.1:n.230-223C>T
ENST00000644831.1:n.462C>T
ENST00000644933.1:c.-297C>T	ENSP00000496133.1:n.-297C>T
ENST00000645020.1:n.1461C>T
ENST00000645285.1:c.-297C>T	ENSP00000495058.1:n.-297C>T
ENST00000645331.1:n.652C>T
ENST00000645620.1:c.-239C>T	ENSP00000493657.1:n.-239C>T
ENST00000646777.1:n.462C>T
ENST00000647016.1:n.766C>T
ENST00000647152.1:c.-297C>T	ENSP00000495893.1:n.-297C>T
ENST00000647209.1:c.*302C>T	ENSP00000495558.1:n.*302C>T
ENST00000647346.1:n.1453C>T
ENST00000299427.10:c.433C>T	ENSP00000299427.6:p.Pro145Ser
ENST00000428886.6:n.455C>T
ENST00000436873.6:c.433C>T	ENSP00000398136.2:p.Pro145Ser
ENST00000528571.5:c.*173C>T	ENSP00000434647.1:n.*173C>T
ENST00000530040.1:n.545C>T
ENST00000533371.5:c.-297C>T	ENSP00000437066.1:n.-297C>T
ENST00000534644.5:n.418C>T
ENST00000611494.4:c.433C>T	ENSP00000484546.1:p.Pro145Ser
NM_000391.3:c.433C>T	NP_000382.3:p.Pro145Ser
NM_000391.4:c.433C>T MANE Select	NP_000382.3:p.Pro145Ser