Canonical Allele Identifier: CA379473802

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637279C>G (hg19) ; chr11:g.6616048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616048C>G , CM000673.2:g.6616048C>G	GRCh38
NC_000011.9:g.6637279C>G , CM000673.1:g.6637279C>G	GRCh37
NC_000011.8:g.6593855C>G	NCBI36
NG_008653.1:g.8414G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.988G>C	ENSP00000507321.1:p.Val330Leu
ENST00000299427.12:c.1102G>C MANE Select	ENSP00000299427.6:p.Val368Leu
ENST00000436873.7:c.339G>C
ENST00000524924.2:n.222G>C
ENST00000533371.6:c.373G>C	ENSP00000437066.1:p.Val125Leu
ENST00000642892.1:c.373G>C	ENSP00000494165.1:p.Val125Leu
ENST00000643342.1:c.192G>C
ENST00000643439.1:c.*842G>C	ENSP00000495849.1:n.*842G>C
ENST00000643479.1:n.1288G>C
ENST00000643516.1:c.611G>C
ENST00000644218.1:c.913G>C	ENSP00000493574.1:p.Val305Leu
ENST00000644683.1:c.*555G>C	ENSP00000494085.1:n.*555G>C
ENST00000644810.1:c.823G>C	ENSP00000495895.1:p.Val275Leu
ENST00000644831.1:n.1278G>C
ENST00000644933.1:c.373G>C	ENSP00000496133.1:p.Val125Leu
ENST00000645285.1:c.184G>C	ENSP00000495058.1:p.Val62Leu
ENST00000645331.1:n.1865G>C
ENST00000645620.1:c.373G>C	ENSP00000493657.1:p.Val125Leu
ENST00000646691.1:n.435G>C
ENST00000646777.1:n.1435G>C
ENST00000647016.1:n.1582G>C
ENST00000647152.1:c.373G>C	ENSP00000495893.1:p.Val125Leu
ENST00000647209.1:c.*971G>C	ENSP00000495558.1:n.*971G>C
ENST00000647346.1:n.2122G>C
ENST00000299427.10:c.1102G>C	ENSP00000299427.6:p.Val368Leu
ENST00000524924.1:n.57G>C
ENST00000533371.5:c.373G>C	ENSP00000437066.1:p.Val125Leu
ENST00000611494.4:c.1102G>C	ENSP00000484546.1:p.Val368Leu
NM_000391.3:c.1102G>C	NP_000382.3:p.Val368Leu
NM_000391.4:c.1102G>C MANE Select	NP_000382.3:p.Val368Leu