Canonical Allele Identifier: CA597439664

Gene: TPP1

Linked Data

• dbSNP Id: rs1426049634
• gnomAD v2: 11-6638424-G-A
• gnomAD v3: 11-6617193-G-A
• gnomAD v4: 11-6617193-G-A
• MyVariant Identifiers: chr11:g.6638424G>A (hg19) ; chr11:g.6617193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617193G>A , CM000673.2:g.6617193G>A	GRCh38
NC_000011.9:g.6638424G>A , CM000673.1:g.6638424G>A	GRCh37
NC_000011.8:g.6595000G>A	NCBI36
NG_008653.1:g.7269C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.395-40C>T	ENSP00000507321.1:n.395-40C>T
ENST00000299427.12:c.509-40C>T MANE Select	ENSP00000299427.6:n.509-40C>T
ENST00000428886.7:n.704C>T
ENST00000436873.7:c.312+108C>T
ENST00000524788.2:n.1628C>T
ENST00000524903.2:n.1744C>T
ENST00000528807.2:n.165-40C>T
ENST00000530040.2:n.479+166C>T
ENST00000533371.6:c.-221-40C>T	ENSP00000437066.1:n.-221-40C>T
ENST00000534644.6:n.457-40C>T
ENST00000642892.1:c.-221-40C>T	ENSP00000494165.1:n.-221-40C>T
ENST00000643439.1:c.*249-40C>T	ENSP00000495849.1:n.*249-40C>T
ENST00000643479.1:n.538-40C>T
ENST00000643516.1:c.395+108C>T
ENST00000644151.1:n.1908C>T
ENST00000644218.1:c.509-40C>T	ENSP00000493574.1:n.509-40C>T
ENST00000644683.1:c.451-40C>T	ENSP00000494085.1:n.451-40C>T
ENST00000644810.1:c.230-40C>T	ENSP00000495895.1:n.230-40C>T
ENST00000644831.1:n.645C>T
ENST00000644933.1:c.-221-40C>T	ENSP00000496133.1:n.-221-40C>T
ENST00000645020.1:n.1644C>T
ENST00000645285.1:c.-221-40C>T	ENSP00000495058.1:n.-221-40C>T
ENST00000645331.1:n.835C>T
ENST00000645620.1:c.-221-40C>T	ENSP00000493657.1:n.-221-40C>T
ENST00000646777.1:n.645C>T
ENST00000647016.1:n.949C>T
ENST00000647152.1:c.-221-40C>T	ENSP00000495893.1:n.-221-40C>T
ENST00000647209.1:c.*378-40C>T	ENSP00000495558.1:n.*378-40C>T
ENST00000647346.1:n.1529-40C>T
ENST00000299427.10:c.509-40C>T	ENSP00000299427.6:n.509-40C>T
ENST00000428886.6:n.638C>T
ENST00000436873.6:c.450+166C>T	ENSP00000398136.2:n.450+166C>T
ENST00000524788.1:n.169C>T
ENST00000528571.5:c.*249-40C>T	ENSP00000434647.1:n.*249-40C>T
ENST00000528807.1:n.19C>T
ENST00000533371.5:c.-221-40C>T	ENSP00000437066.1:n.-221-40C>T
ENST00000534644.5:n.494-40C>T
ENST00000611494.4:c.509-40C>T	ENSP00000484546.1:n.509-40C>T
NM_000391.3:c.509-40C>T	NP_000382.3:n.509-40C>T
NM_000391.4:c.509-40C>T MANE Select	NP_000382.3:n.509-40C>T