Canonical Allele Identifier: CA217323509

Gene: TPP1

Linked Data

• dbSNP Id: rs1012804457
• gnomAD v4: 11-6617123-G-A
• MyVariant Identifiers: chr11:g.6638354G>A (hg19) ; chr11:g.6617123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617123G>A , CM000673.2:g.6617123G>A	GRCh38
NC_000011.9:g.6638354G>A , CM000673.1:g.6638354G>A	GRCh37
NC_000011.8:g.6594930G>A	NCBI36
NG_008653.1:g.7339C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.425C>T	ENSP00000507321.1:p.Ser142Leu
ENST00000299427.12:c.539C>T MANE Select	ENSP00000299427.6:p.Ser180Leu
ENST00000428886.7:n.774C>T
ENST00000436873.7:c.312+178C>T
ENST00000524788.2:n.1698C>T
ENST00000524903.2:n.1814C>T
ENST00000528807.2:n.195C>T
ENST00000530040.2:n.479+236C>T
ENST00000533371.6:c.-191C>T	ENSP00000437066.1:n.-191C>T
ENST00000534644.6:n.487C>T
ENST00000642892.1:c.-191C>T	ENSP00000494165.1:n.-191C>T
ENST00000643439.1:c.*279C>T	ENSP00000495849.1:n.*279C>T
ENST00000643479.1:n.568C>T
ENST00000643516.1:c.395+178C>T
ENST00000644151.1:n.1978C>T
ENST00000644218.1:c.539C>T	ENSP00000493574.1:p.Ser180Leu
ENST00000644683.1:c.481C>T	ENSP00000494085.1:p.His161Tyr
ENST00000644810.1:c.260C>T	ENSP00000495895.1:p.Ser87Leu
ENST00000644831.1:n.715C>T
ENST00000644933.1:c.-191C>T	ENSP00000496133.1:n.-191C>T
ENST00000645020.1:n.1714C>T
ENST00000645285.1:c.-191C>T	ENSP00000495058.1:n.-191C>T
ENST00000645331.1:n.905C>T
ENST00000645620.1:c.-191C>T	ENSP00000493657.1:n.-191C>T
ENST00000646777.1:n.715C>T
ENST00000647016.1:n.1019C>T
ENST00000647152.1:c.-191C>T	ENSP00000495893.1:n.-191C>T
ENST00000647209.1:c.*408C>T	ENSP00000495558.1:n.*408C>T
ENST00000647346.1:n.1559C>T
ENST00000299427.10:c.539C>T	ENSP00000299427.6:p.Ser180Leu
ENST00000428886.6:n.708C>T
ENST00000436873.6:c.450+236C>T	ENSP00000398136.2:n.450+236C>T
ENST00000524788.1:n.239C>T
ENST00000528571.5:c.*279C>T	ENSP00000434647.1:n.*279C>T
ENST00000528807.1:n.89C>T
ENST00000533371.5:c.-191C>T	ENSP00000437066.1:n.-191C>T
ENST00000534644.5:n.524C>T
ENST00000611494.4:c.539C>T	ENSP00000484546.1:p.Ser180Leu
NM_000391.3:c.539C>T	NP_000382.3:p.Ser180Leu
NM_000391.4:c.539C>T MANE Select	NP_000382.3:p.Ser180Leu