Canonical Allele Identifier: CA379474971

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616708-A-G
• MyVariant Identifiers: chr11:g.6637939A>G (hg19) ; chr11:g.6616708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616708A>G , CM000673.2:g.6616708A>G	GRCh38
NC_000011.9:g.6637939A>G , CM000673.1:g.6637939A>G	GRCh37
NC_000011.8:g.6594515A>G	NCBI36
NG_008653.1:g.7754T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.725T>C	ENSP00000507321.1:p.Leu242Pro
ENST00000299427.12:c.839T>C MANE Select	ENSP00000299427.6:p.Leu280Pro
ENST00000436873.7:c.312+593T>C
ENST00000524788.2:n.1998T>C
ENST00000524903.2:n.2114T>C
ENST00000528807.2:n.495T>C
ENST00000530040.2:n.480-205T>C
ENST00000533371.6:c.110T>C	ENSP00000437066.1:p.Leu37Pro
ENST00000642892.1:c.110T>C	ENSP00000494165.1:p.Leu37Pro
ENST00000643439.1:c.*579T>C	ENSP00000495849.1:n.*579T>C
ENST00000643479.1:n.868T>C
ENST00000643516.1:c.396-205T>C
ENST00000644151.1:n.2278T>C
ENST00000644218.1:c.839T>C	ENSP00000493574.1:p.Leu280Pro
ENST00000644683.1:c.*292T>C	ENSP00000494085.1:n.*292T>C
ENST00000644810.1:c.560T>C	ENSP00000495895.1:p.Leu187Pro
ENST00000644831.1:n.1015T>C
ENST00000644933.1:c.110T>C	ENSP00000496133.1:p.Leu37Pro
ENST00000645020.1:n.2129T>C
ENST00000645285.1:c.110T>C	ENSP00000495058.1:p.Leu37Pro
ENST00000645331.1:n.1205T>C
ENST00000645620.1:c.110T>C	ENSP00000493657.1:p.Leu37Pro
ENST00000646777.1:n.1015T>C
ENST00000647016.1:n.1319T>C
ENST00000647152.1:c.110T>C	ENSP00000495893.1:p.Leu37Pro
ENST00000647209.1:c.*708T>C	ENSP00000495558.1:n.*708T>C
ENST00000647346.1:n.1859T>C
ENST00000299427.10:c.839T>C	ENSP00000299427.6:p.Leu280Pro
ENST00000436873.6:c.451-205T>C	ENSP00000398136.2:n.451-205T>C
ENST00000524788.1:n.539T>C
ENST00000528807.1:n.389T>C
ENST00000533371.5:c.110T>C	ENSP00000437066.1:p.Leu37Pro
ENST00000611494.4:c.839T>C	ENSP00000484546.1:p.Leu280Pro
NM_000391.3:c.839T>C	NP_000382.3:p.Leu280Pro
NM_000391.4:c.839T>C MANE Select	NP_000382.3:p.Leu280Pro