Canonical Allele Identifier: CA379474402

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2747723
• ClinVar RCV Id: RCV003570595
• gnomAD v4: 11-6616433-A-G
• MyVariant Identifiers: chr11:g.6637664A>G (hg19) ; chr11:g.6616433A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616433A>G , CM000673.2:g.6616433A>G	GRCh38
NC_000011.9:g.6637664A>G , CM000673.1:g.6637664A>G	GRCh37
NC_000011.8:g.6594240A>G	NCBI36
NG_008653.1:g.8029T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.843T>C	ENSP00000507321.1:p.His281=
ENST00000299427.12:c.957T>C MANE Select	ENSP00000299427.6:p.His319=
ENST00000436873.7:c.313-359T>C
ENST00000530040.2:n.550T>C
ENST00000533371.6:c.228T>C	ENSP00000437066.1:p.His76=
ENST00000642892.1:c.228T>C	ENSP00000494165.1:p.His76=
ENST00000643342.1:c.47T>C
ENST00000643439.1:c.*697T>C	ENSP00000495849.1:n.*697T>C
ENST00000643479.1:n.1143T>C
ENST00000643516.1:c.466T>C
ENST00000644218.1:c.886+228T>C	ENSP00000493574.1:n.886+228T>C
ENST00000644683.1:c.*410T>C	ENSP00000494085.1:n.*410T>C
ENST00000644810.1:c.678T>C	ENSP00000495895.1:p.His226=
ENST00000644831.1:n.1133T>C
ENST00000644933.1:c.228T>C	ENSP00000496133.1:p.His76=
ENST00000645285.1:c.157+228T>C	ENSP00000495058.1:n.157+228T>C
ENST00000645331.1:n.1480T>C
ENST00000645620.1:c.228T>C	ENSP00000493657.1:p.His76=
ENST00000646691.1:n.50T>C
ENST00000646777.1:n.1290T>C
ENST00000647016.1:n.1437T>C
ENST00000647152.1:c.228T>C	ENSP00000495893.1:p.His76=
ENST00000647209.1:c.*826T>C	ENSP00000495558.1:n.*826T>C
ENST00000647346.1:n.1977T>C
ENST00000299427.10:c.957T>C	ENSP00000299427.6:p.His319=
ENST00000436873.6:c.521T>C	ENSP00000398136.2:p.Met174Thr
ENST00000533371.5:c.228T>C	ENSP00000437066.1:p.His76=
ENST00000611494.4:c.957T>C	ENSP00000484546.1:p.His319=
NM_000391.3:c.957T>C	NP_000382.3:p.His319=
NM_000391.4:c.957T>C MANE Select	NP_000382.3:p.His319=