Canonical Allele Identifier: CA217323774

Gene: TPP1

Linked Data

• dbSNP Id: rs1035429112
• gnomAD v3: 11-6617253-G-A
• gnomAD v4: 11-6617253-G-A
• MyVariant Identifiers: chr11:g.6638484G>A (hg19) ; chr11:g.6617253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617253G>A , CM000673.2:g.6617253G>A	GRCh38
NC_000011.9:g.6638484G>A , CM000673.1:g.6638484G>A	GRCh37
NC_000011.8:g.6595060G>A	NCBI36
NG_008653.1:g.7209C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.394+48C>T	ENSP00000507321.1:n.394+48C>T
ENST00000299427.12:c.508+48C>T MANE Select	ENSP00000299427.6:n.508+48C>T
ENST00000428886.7:n.644C>T
ENST00000436873.7:c.312+48C>T
ENST00000524788.2:n.1568C>T
ENST00000524903.2:n.1684C>T
ENST00000528571.6:c.*296C>T	ENSP00000434647.1:n.*296C>T
ENST00000528807.2:n.164+48C>T
ENST00000530040.2:n.479+106C>T
ENST00000533371.6:c.-222+48C>T	ENSP00000437066.1:n.-222+48C>T
ENST00000534644.6:n.457-100C>T
ENST00000642892.1:c.-221-100C>T	ENSP00000494165.1:n.-221-100C>T
ENST00000643439.1:c.*248+48C>T	ENSP00000495849.1:n.*248+48C>T
ENST00000643479.1:n.537+48C>T
ENST00000643516.1:c.395+48C>T
ENST00000644151.1:n.1848C>T
ENST00000644218.1:c.508+48C>T	ENSP00000493574.1:n.508+48C>T
ENST00000644683.1:c.451-100C>T	ENSP00000494085.1:n.451-100C>T
ENST00000644810.1:c.230-100C>T	ENSP00000495895.1:n.230-100C>T
ENST00000644831.1:n.585C>T
ENST00000644933.1:c.-222+48C>T	ENSP00000496133.1:n.-222+48C>T
ENST00000645020.1:n.1584C>T
ENST00000645285.1:c.-222+48C>T	ENSP00000495058.1:n.-222+48C>T
ENST00000645331.1:n.775C>T
ENST00000645620.1:c.-221-100C>T	ENSP00000493657.1:n.-221-100C>T
ENST00000646777.1:n.585C>T
ENST00000647016.1:n.889C>T
ENST00000647152.1:c.-222+48C>T	ENSP00000495893.1:n.-222+48C>T
ENST00000647209.1:c.*377+48C>T	ENSP00000495558.1:n.*377+48C>T
ENST00000647346.1:n.1528+48C>T
ENST00000299427.10:c.508+48C>T	ENSP00000299427.6:n.508+48C>T
ENST00000428886.6:n.578C>T
ENST00000436873.6:c.450+106C>T	ENSP00000398136.2:n.450+106C>T
ENST00000524788.1:n.109C>T
ENST00000528571.5:c.*248+48C>T	ENSP00000434647.1:n.*248+48C>T
ENST00000533371.5:c.-222+48C>T	ENSP00000437066.1:n.-222+48C>T
ENST00000534644.5:n.493+48C>T
ENST00000611494.4:c.508+48C>T	ENSP00000484546.1:n.508+48C>T
NM_000391.3:c.508+48C>T	NP_000382.3:n.508+48C>T
NM_000391.4:c.508+48C>T MANE Select	NP_000382.3:n.508+48C>T