Canonical Allele Identifier: CA5858995

Gene: TPP1

Linked Data

• dbSNP Id: rs766772440
• ExAC: 11:6638927 A / G
• gnomAD v2: 11-6638927-A-G
• gnomAD v4: 11-6617696-A-G
• MyVariant Identifiers: chr11:g.6638927A>G (hg19) ; chr11:g.6617696A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617696A>G , CM000673.2:g.6617696A>G	GRCh38
NC_000011.9:g.6638927A>G , CM000673.1:g.6638927A>G	GRCh37
NC_000011.8:g.6595503A>G	NCBI36
NG_008653.1:g.6766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.196T>C	ENSP00000507321.1:p.Leu66=
ENST00000299427.12:c.310T>C MANE Select	ENSP00000299427.6:p.Leu104=
ENST00000428886.7:n.398T>C
ENST00000436873.7:c.114T>C
ENST00000524788.2:n.1322T>C
ENST00000524903.2:n.1438T>C
ENST00000528571.6:c.*50T>C	ENSP00000434647.1:n.*50T>C
ENST00000530040.2:n.339T>C
ENST00000533371.6:c.-420T>C	ENSP00000437066.1:n.-420T>C
ENST00000534644.6:n.311T>C
ENST00000642892.1:c.-367T>C	ENSP00000494165.1:n.-367T>C
ENST00000643439.1:c.*50T>C	ENSP00000495849.1:n.*50T>C
ENST00000643479.1:n.339T>C
ENST00000643516.1:c.197T>C
ENST00000644151.1:n.1602T>C
ENST00000644218.1:c.310T>C	ENSP00000493574.1:p.Leu104=
ENST00000644683.1:c.310T>C	ENSP00000494085.1:p.Leu104=
ENST00000644810.1:c.230-543T>C	ENSP00000495895.1:n.230-543T>C
ENST00000644831.1:n.339T>C
ENST00000644933.1:c.-420T>C	ENSP00000496133.1:n.-420T>C
ENST00000645020.1:n.1338T>C
ENST00000645285.1:c.-420T>C	ENSP00000495058.1:n.-420T>C
ENST00000645331.1:n.332T>C
ENST00000645620.1:c.-362T>C	ENSP00000493657.1:n.-362T>C
ENST00000646777.1:n.339T>C
ENST00000647016.1:n.643T>C
ENST00000647152.1:c.-420T>C	ENSP00000495893.1:n.-420T>C
ENST00000647209.1:c.*179T>C	ENSP00000495558.1:n.*179T>C
ENST00000647346.1:n.1330T>C
ENST00000299427.10:c.310T>C	ENSP00000299427.6:p.Leu104=
ENST00000428886.6:n.332T>C
ENST00000436873.6:c.310T>C	ENSP00000398136.2:p.Leu104=
ENST00000528571.5:c.*50T>C	ENSP00000434647.1:n.*50T>C
ENST00000530040.1:n.422T>C
ENST00000533371.5:c.-420T>C	ENSP00000437066.1:n.-420T>C
ENST00000534644.5:n.295T>C
ENST00000611494.4:c.310T>C	ENSP00000484546.1:p.Leu104=
NM_000391.3:c.310T>C	NP_000382.3:p.Leu104=
NM_000391.4:c.310T>C MANE Select	NP_000382.3:p.Leu104=