Canonical Allele Identifier: CA379475663

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638531C>A (hg19) ; chr11:g.6617300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617300C>A , CM000673.2:g.6617300C>A	GRCh38
NC_000011.9:g.6638531C>A , CM000673.1:g.6638531C>A	GRCh37
NC_000011.8:g.6595107C>A	NCBI36
NG_008653.1:g.7162G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394+1G>T	ENSP00000507321.1:n.394+1G>T
ENST00000299427.12:c.508+1G>T MANE Select	ENSP00000299427.6:n.508+1G>T
ENST00000428886.7:n.597G>T
ENST00000436873.7:c.312+1G>T
ENST00000524788.2:n.1521G>T
ENST00000524903.2:n.1637G>T
ENST00000528571.6:c.*249G>T	ENSP00000434647.1:n.*249G>T
ENST00000528807.2:n.164+1G>T
ENST00000530040.2:n.479+59G>T
ENST00000533371.6:c.-222+1G>T	ENSP00000437066.1:n.-222+1G>T
ENST00000534644.6:n.456+54G>T
ENST00000642892.1:c.-222+54G>T	ENSP00000494165.1:n.-222+54G>T
ENST00000643439.1:c.*248+1G>T	ENSP00000495849.1:n.*248+1G>T
ENST00000643479.1:n.537+1G>T
ENST00000643516.1:c.395+1G>T
ENST00000644151.1:n.1801G>T
ENST00000644218.1:c.508+1G>T	ENSP00000493574.1:n.508+1G>T
ENST00000644683.1:c.450+59G>T	ENSP00000494085.1:n.450+59G>T
ENST00000644810.1:c.230-147G>T	ENSP00000495895.1:n.230-147G>T
ENST00000644831.1:n.538G>T
ENST00000644933.1:c.-222+1G>T	ENSP00000496133.1:n.-222+1G>T
ENST00000645020.1:n.1537G>T
ENST00000645285.1:c.-222+1G>T	ENSP00000495058.1:n.-222+1G>T
ENST00000645331.1:n.728G>T
ENST00000645620.1:c.-222+59G>T	ENSP00000493657.1:n.-222+59G>T
ENST00000646777.1:n.538G>T
ENST00000647016.1:n.842G>T
ENST00000647152.1:c.-222+1G>T	ENSP00000495893.1:n.-222+1G>T
ENST00000647209.1:c.*377+1G>T	ENSP00000495558.1:n.*377+1G>T
ENST00000647346.1:n.1528+1G>T
ENST00000299427.10:c.508+1G>T	ENSP00000299427.6:n.508+1G>T
ENST00000428886.6:n.531G>T
ENST00000436873.6:c.450+59G>T	ENSP00000398136.2:n.450+59G>T
ENST00000524788.1:n.62G>T
ENST00000528571.5:c.*248+1G>T	ENSP00000434647.1:n.*248+1G>T
ENST00000533371.5:c.-222+1G>T	ENSP00000437066.1:n.-222+1G>T
ENST00000534644.5:n.493+1G>T
ENST00000611494.4:c.508+1G>T	ENSP00000484546.1:n.508+1G>T
NM_000391.3:c.508+1G>T	NP_000382.3:n.508+1G>T
NM_000391.4:c.508+1G>T MANE Select	NP_000382.3:n.508+1G>T