Canonical Allele Identifier: CA472922986

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617682-G-A
• MyVariant Identifiers: chr11:g.6638913G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617682G>A , CM000673.2:g.6617682G>A	GRCh38
NC_000011.9:g.6638913G>A , CM000673.1:g.6638913G>A	GRCh37
NC_000011.8:g.6595489G>A	NCBI36
NG_008653.1:g.6780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.210C>T	ENSP00000507321.1:p.Ala70=
ENST00000299427.12:c.324C>T MANE Select	ENSP00000299427.6:p.Ala108=
ENST00000428886.7:n.412C>T
ENST00000436873.7:c.128C>T
ENST00000524788.2:n.1336C>T
ENST00000524903.2:n.1452C>T
ENST00000528571.6:c.*64C>T	ENSP00000434647.1:n.*64C>T
ENST00000530040.2:n.353C>T
ENST00000533371.6:c.-406C>T	ENSP00000437066.1:n.-406C>T
ENST00000534644.6:n.325C>T
ENST00000642892.1:c.-353C>T	ENSP00000494165.1:n.-353C>T
ENST00000643439.1:c.*64C>T	ENSP00000495849.1:n.*64C>T
ENST00000643479.1:n.353C>T
ENST00000643516.1:c.211C>T
ENST00000644151.1:n.1616C>T
ENST00000644218.1:c.324C>T	ENSP00000493574.1:p.Ala108=
ENST00000644683.1:c.324C>T	ENSP00000494085.1:p.Ala108=
ENST00000644810.1:c.230-529C>T	ENSP00000495895.1:n.230-529C>T
ENST00000644831.1:n.353C>T
ENST00000644933.1:c.-406C>T	ENSP00000496133.1:n.-406C>T
ENST00000645020.1:n.1352C>T
ENST00000645285.1:c.-406C>T	ENSP00000495058.1:n.-406C>T
ENST00000645331.1:n.346C>T
ENST00000645620.1:c.-348C>T	ENSP00000493657.1:n.-348C>T
ENST00000646777.1:n.353C>T
ENST00000647016.1:n.657C>T
ENST00000647152.1:c.-406C>T	ENSP00000495893.1:n.-406C>T
ENST00000647209.1:c.*193C>T	ENSP00000495558.1:n.*193C>T
ENST00000647346.1:n.1344C>T
ENST00000299427.10:c.324C>T	ENSP00000299427.6:p.Ala108=
ENST00000428886.6:n.346C>T
ENST00000436873.6:c.324C>T	ENSP00000398136.2:p.Ala108=
ENST00000528571.5:c.*64C>T	ENSP00000434647.1:n.*64C>T
ENST00000530040.1:n.436C>T
ENST00000533371.5:c.-406C>T	ENSP00000437066.1:n.-406C>T
ENST00000534644.5:n.309C>T
ENST00000611494.4:c.324C>T	ENSP00000484546.1:p.Ala108=
NM_000391.3:c.324C>T	NP_000382.3:p.Ala108=
NM_000391.4:c.324C>T MANE Select	NP_000382.3:p.Ala108=