Canonical Allele Identifier: CA379475579

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638341T>G (hg19) ; chr11:g.6617110T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617110T>G , CM000673.2:g.6617110T>G	GRCh38
NC_000011.9:g.6638341T>G , CM000673.1:g.6638341T>G	GRCh37
NC_000011.8:g.6594917T>G	NCBI36
NG_008653.1:g.7352A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.438A>C	ENSP00000507321.1:p.Gln146His
ENST00000299427.12:c.552A>C MANE Select	ENSP00000299427.6:p.Gln184His
ENST00000428886.7:n.787A>C
ENST00000436873.7:c.312+191A>C
ENST00000524788.2:n.1711A>C
ENST00000524903.2:n.1827A>C
ENST00000528807.2:n.208A>C
ENST00000530040.2:n.479+249A>C
ENST00000533371.6:c.-178A>C	ENSP00000437066.1:n.-178A>C
ENST00000534644.6:n.500A>C
ENST00000642892.1:c.-178A>C	ENSP00000494165.1:n.-178A>C
ENST00000643439.1:c.*292A>C	ENSP00000495849.1:n.*292A>C
ENST00000643479.1:n.581A>C
ENST00000643516.1:c.395+191A>C
ENST00000644151.1:n.1991A>C
ENST00000644218.1:c.552A>C	ENSP00000493574.1:p.Gln184His
ENST00000644683.1:c.*5A>C	ENSP00000494085.1:n.*5A>C
ENST00000644810.1:c.273A>C	ENSP00000495895.1:p.Gln91His
ENST00000644831.1:n.728A>C
ENST00000644933.1:c.-178A>C	ENSP00000496133.1:n.-178A>C
ENST00000645020.1:n.1727A>C
ENST00000645285.1:c.-178A>C	ENSP00000495058.1:n.-178A>C
ENST00000645331.1:n.918A>C
ENST00000645620.1:c.-178A>C	ENSP00000493657.1:n.-178A>C
ENST00000646777.1:n.728A>C
ENST00000647016.1:n.1032A>C
ENST00000647152.1:c.-178A>C	ENSP00000495893.1:n.-178A>C
ENST00000647209.1:c.*421A>C	ENSP00000495558.1:n.*421A>C
ENST00000647346.1:n.1572A>C
ENST00000299427.10:c.552A>C	ENSP00000299427.6:p.Gln184His
ENST00000428886.6:n.721A>C
ENST00000436873.6:c.450+249A>C	ENSP00000398136.2:n.450+249A>C
ENST00000524788.1:n.252A>C
ENST00000528571.5:c.*292A>C	ENSP00000434647.1:n.*292A>C
ENST00000528807.1:n.102A>C
ENST00000533371.5:c.-178A>C	ENSP00000437066.1:n.-178A>C
ENST00000534644.5:n.537A>C
ENST00000611494.4:c.552A>C	ENSP00000484546.1:p.Gln184His
NM_000391.3:c.552A>C	NP_000382.3:p.Gln184His
NM_000391.4:c.552A>C MANE Select	NP_000382.3:p.Gln184His