Canonical Allele Identifier: CA379472923

Gene: TPP1

Linked Data

• dbSNP Id: rs1232467507
• gnomAD v4: 11-6615474-A-G
• MyVariant Identifiers: chr11:g.6636705A>G (hg19) ; chr11:g.6615474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615474A>G , CM000673.2:g.6615474A>G	GRCh38
NC_000011.9:g.6636705A>G , CM000673.1:g.6636705A>G	GRCh37
NC_000011.8:g.6593281A>G	NCBI36
NG_008653.1:g.8988T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1120T>C	ENSP00000507321.1:p.Phe374Leu
ENST00000299427.12:c.1234T>C MANE Select	ENSP00000299427.6:p.Phe412Leu
ENST00000436873.7:c.471T>C
ENST00000524924.2:n.354T>C
ENST00000533371.6:c.505T>C	ENSP00000437066.1:p.Phe169Leu
ENST00000642892.1:c.505T>C	ENSP00000494165.1:p.Phe169Leu
ENST00000643342.1:c.307T>C
ENST00000643439.1:c.*974T>C	ENSP00000495849.1:n.*974T>C
ENST00000643479.1:n.1420T>C
ENST00000643516.1:c.743T>C
ENST00000644218.1:c.1045T>C	ENSP00000493574.1:p.Phe349Leu
ENST00000644683.1:c.*687T>C	ENSP00000494085.1:n.*687T>C
ENST00000644810.1:c.955T>C	ENSP00000495895.1:p.Phe319Leu
ENST00000644831.1:n.1410T>C
ENST00000644933.1:c.*100T>C	ENSP00000496133.1:n.*100T>C
ENST00000645285.1:c.*100T>C	ENSP00000495058.1:n.*100T>C
ENST00000645331.1:n.2439T>C
ENST00000645620.1:c.505T>C	ENSP00000493657.1:p.Phe169Leu
ENST00000646691.1:n.1009T>C
ENST00000646777.1:n.1567T>C
ENST00000647016.1:n.1714T>C
ENST00000647152.1:c.505T>C	ENSP00000495893.1:p.Phe169Leu
ENST00000647209.1:c.*1103T>C	ENSP00000495558.1:n.*1103T>C
ENST00000647346.1:n.2254T>C
ENST00000299427.10:c.1234T>C	ENSP00000299427.6:p.Phe412Leu
ENST00000524924.1:n.189T>C
ENST00000532191.1:n.287T>C
ENST00000533371.5:c.505T>C	ENSP00000437066.1:p.Phe169Leu
ENST00000611494.4:c.1234T>C	ENSP00000484546.1:p.Phe412Leu
NM_000391.3:c.1234T>C	NP_000382.3:p.Phe412Leu
NM_000391.4:c.1234T>C MANE Select	NP_000382.3:p.Phe412Leu