Canonical Allele Identifier: CA472771607

Gene: TPP1

Linked Data

• dbSNP Id: rs1280109809
• gnomAD v3: 11-6615472-G-A
• gnomAD v4: 11-6615472-G-A
• MyVariant Identifiers: chr11:g.6636703G>A (hg19) ; chr11:g.6615472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615472G>A , CM000673.2:g.6615472G>A	GRCh38
NC_000011.9:g.6636703G>A , CM000673.1:g.6636703G>A	GRCh37
NC_000011.8:g.6593279G>A	NCBI36
NG_008653.1:g.8990C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1122C>T	ENSP00000507321.1:p.Phe374=
ENST00000299427.12:c.1236C>T MANE Select	ENSP00000299427.6:p.Phe412=
ENST00000436873.7:c.473C>T
ENST00000524924.2:n.356C>T
ENST00000533371.6:c.507C>T	ENSP00000437066.1:p.Phe169=
ENST00000642892.1:c.507C>T	ENSP00000494165.1:p.Phe169=
ENST00000643342.1:c.309C>T
ENST00000643439.1:c.*976C>T	ENSP00000495849.1:n.*976C>T
ENST00000643479.1:n.1422C>T
ENST00000643516.1:c.745C>T
ENST00000644218.1:c.1047C>T	ENSP00000493574.1:p.Phe349=
ENST00000644683.1:c.*689C>T	ENSP00000494085.1:n.*689C>T
ENST00000644810.1:c.957C>T	ENSP00000495895.1:p.Phe319=
ENST00000644831.1:n.1412C>T
ENST00000644933.1:c.*102C>T	ENSP00000496133.1:n.*102C>T
ENST00000645285.1:c.*102C>T	ENSP00000495058.1:n.*102C>T
ENST00000645331.1:n.2441C>T
ENST00000645620.1:c.507C>T	ENSP00000493657.1:p.Phe169=
ENST00000646691.1:n.1011C>T
ENST00000646777.1:n.1569C>T
ENST00000647016.1:n.1716C>T
ENST00000647152.1:c.507C>T	ENSP00000495893.1:p.Phe169=
ENST00000647209.1:c.*1105C>T	ENSP00000495558.1:n.*1105C>T
ENST00000647346.1:n.2256C>T
ENST00000299427.10:c.1236C>T	ENSP00000299427.6:p.Phe412=
ENST00000524611.1:n.2C>T
ENST00000524924.1:n.191C>T
ENST00000532191.1:n.289C>T
ENST00000533371.5:c.507C>T	ENSP00000437066.1:p.Phe169=
ENST00000611494.4:c.1236C>T	ENSP00000484546.1:p.Phe412=
NM_000391.3:c.1236C>T	NP_000382.3:p.Phe412=
NM_000391.4:c.1236C>T MANE Select	NP_000382.3:p.Phe412=