Canonical Allele Identifier: CA597439674

Gene: TPP1

Linked Data

• dbSNP Id: rs1360209375
• gnomAD v2: 11-6638500-G-A
• gnomAD v3: 11-6617269-G-A
• gnomAD v4: 11-6617269-G-A
• MyVariant Identifiers: chr11:g.6638500G>A (hg19) ; chr11:g.6617269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617269G>A , CM000673.2:g.6617269G>A	GRCh38
NC_000011.9:g.6638500G>A , CM000673.1:g.6638500G>A	GRCh37
NC_000011.8:g.6595076G>A	NCBI36
NG_008653.1:g.7193C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.394+32C>T	ENSP00000507321.1:n.394+32C>T
ENST00000299427.12:c.508+32C>T MANE Select	ENSP00000299427.6:n.508+32C>T
ENST00000428886.7:n.628C>T
ENST00000436873.7:c.312+32C>T
ENST00000524788.2:n.1552C>T
ENST00000524903.2:n.1668C>T
ENST00000528571.6:c.*280C>T	ENSP00000434647.1:n.*280C>T
ENST00000528807.2:n.164+32C>T
ENST00000530040.2:n.479+90C>T
ENST00000533371.6:c.-222+32C>T	ENSP00000437066.1:n.-222+32C>T
ENST00000534644.6:n.456+85C>T
ENST00000642892.1:c.-222+85C>T	ENSP00000494165.1:n.-222+85C>T
ENST00000643439.1:c.*248+32C>T	ENSP00000495849.1:n.*248+32C>T
ENST00000643479.1:n.537+32C>T
ENST00000643516.1:c.395+32C>T
ENST00000644151.1:n.1832C>T
ENST00000644218.1:c.508+32C>T	ENSP00000493574.1:n.508+32C>T
ENST00000644683.1:c.450+90C>T	ENSP00000494085.1:n.450+90C>T
ENST00000644810.1:c.230-116C>T	ENSP00000495895.1:n.230-116C>T
ENST00000644831.1:n.569C>T
ENST00000644933.1:c.-222+32C>T	ENSP00000496133.1:n.-222+32C>T
ENST00000645020.1:n.1568C>T
ENST00000645285.1:c.-222+32C>T	ENSP00000495058.1:n.-222+32C>T
ENST00000645331.1:n.759C>T
ENST00000645620.1:c.-222+90C>T	ENSP00000493657.1:n.-222+90C>T
ENST00000646777.1:n.569C>T
ENST00000647016.1:n.873C>T
ENST00000647152.1:c.-222+32C>T	ENSP00000495893.1:n.-222+32C>T
ENST00000647209.1:c.*377+32C>T	ENSP00000495558.1:n.*377+32C>T
ENST00000647346.1:n.1528+32C>T
ENST00000299427.10:c.508+32C>T	ENSP00000299427.6:n.508+32C>T
ENST00000428886.6:n.562C>T
ENST00000436873.6:c.450+90C>T	ENSP00000398136.2:n.450+90C>T
ENST00000524788.1:n.93C>T
ENST00000528571.5:c.*248+32C>T	ENSP00000434647.1:n.*248+32C>T
ENST00000533371.5:c.-222+32C>T	ENSP00000437066.1:n.-222+32C>T
ENST00000534644.5:n.493+32C>T
ENST00000611494.4:c.508+32C>T	ENSP00000484546.1:n.508+32C>T
NM_000391.3:c.508+32C>T	NP_000382.3:n.508+32C>T
NM_000391.4:c.508+32C>T MANE Select	NP_000382.3:n.508+32C>T