Canonical Allele Identifier: CA379475141

Gene: TPP1

Linked Data

• ClinVar Variation Id: 996968
• ClinVar RCV Id: RCV001291790 ; RCV001859234
• dbSNP Id: rs1855592796
• gnomAD v4: 11-6616796-A-G
• MyVariant Identifiers: chr11:g.6638027A>G (hg19) ; chr11:g.6616796A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616796A>G , CM000673.2:g.6616796A>G	GRCh38
NC_000011.9:g.6638027A>G , CM000673.1:g.6638027A>G	GRCh37
NC_000011.8:g.6594603A>G	NCBI36
NG_008653.1:g.7666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.637T>C	ENSP00000507321.1:p.Phe213Leu
ENST00000299427.12:c.751T>C MANE Select	ENSP00000299427.6:p.Phe251Leu
ENST00000436873.7:c.312+505T>C
ENST00000524788.2:n.1910T>C
ENST00000524903.2:n.2026T>C
ENST00000528807.2:n.407T>C
ENST00000530040.2:n.480-293T>C
ENST00000533371.6:c.22T>C	ENSP00000437066.1:p.Phe8Leu
ENST00000642892.1:c.22T>C	ENSP00000494165.1:p.Phe8Leu
ENST00000643439.1:c.*491T>C	ENSP00000495849.1:n.*491T>C
ENST00000643479.1:n.780T>C
ENST00000643516.1:c.396-293T>C
ENST00000644151.1:n.2190T>C
ENST00000644218.1:c.751T>C	ENSP00000493574.1:p.Phe251Leu
ENST00000644683.1:c.*204T>C	ENSP00000494085.1:n.*204T>C
ENST00000644810.1:c.472T>C	ENSP00000495895.1:p.Phe158Leu
ENST00000644831.1:n.927T>C
ENST00000644933.1:c.22T>C	ENSP00000496133.1:p.Phe8Leu
ENST00000645020.1:n.2041T>C
ENST00000645285.1:c.22T>C	ENSP00000495058.1:p.Phe8Leu
ENST00000645331.1:n.1117T>C
ENST00000645620.1:c.22T>C	ENSP00000493657.1:p.Phe8Leu
ENST00000646777.1:n.927T>C
ENST00000647016.1:n.1231T>C
ENST00000647152.1:c.22T>C	ENSP00000495893.1:p.Phe8Leu
ENST00000647209.1:c.*620T>C	ENSP00000495558.1:n.*620T>C
ENST00000647346.1:n.1771T>C
ENST00000299427.10:c.751T>C	ENSP00000299427.6:p.Phe251Leu
ENST00000436873.6:c.451-293T>C	ENSP00000398136.2:n.451-293T>C
ENST00000524788.1:n.451T>C
ENST00000528807.1:n.301T>C
ENST00000533371.5:c.22T>C	ENSP00000437066.1:p.Phe8Leu
ENST00000611494.4:c.751T>C	ENSP00000484546.1:p.Phe251Leu
NM_000391.3:c.751T>C	NP_000382.3:p.Phe251Leu
NM_000391.4:c.751T>C MANE Select	NP_000382.3:p.Phe251Leu