Canonical Allele Identifier: CA379473836

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637287C>G (hg19) ; chr11:g.6616056C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616056C>G , CM000673.2:g.6616056C>G	GRCh38
NC_000011.9:g.6637287C>G , CM000673.1:g.6637287C>G	GRCh37
NC_000011.8:g.6593863C>G	NCBI36
NG_008653.1:g.8406G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.980G>C	ENSP00000507321.1:p.Cys327Ser
ENST00000299427.12:c.1094G>C MANE Select	ENSP00000299427.6:p.Cys365Ser
ENST00000436873.7:c.331G>C
ENST00000524924.2:n.214G>C
ENST00000533371.6:c.365G>C	ENSP00000437066.1:p.Cys122Ser
ENST00000642892.1:c.365G>C	ENSP00000494165.1:p.Cys122Ser
ENST00000643342.1:c.184G>C
ENST00000643439.1:c.*834G>C	ENSP00000495849.1:n.*834G>C
ENST00000643479.1:n.1280G>C
ENST00000643516.1:c.603G>C
ENST00000644218.1:c.905G>C	ENSP00000493574.1:p.Cys302Ser
ENST00000644683.1:c.*547G>C	ENSP00000494085.1:n.*547G>C
ENST00000644810.1:c.815G>C	ENSP00000495895.1:p.Cys272Ser
ENST00000644831.1:n.1270G>C
ENST00000644933.1:c.365G>C	ENSP00000496133.1:p.Cys122Ser
ENST00000645285.1:c.176G>C	ENSP00000495058.1:p.Cys59Ser
ENST00000645331.1:n.1857G>C
ENST00000645620.1:c.365G>C	ENSP00000493657.1:p.Cys122Ser
ENST00000646691.1:n.427G>C
ENST00000646777.1:n.1427G>C
ENST00000647016.1:n.1574G>C
ENST00000647152.1:c.365G>C	ENSP00000495893.1:p.Cys122Ser
ENST00000647209.1:c.*963G>C	ENSP00000495558.1:n.*963G>C
ENST00000647346.1:n.2114G>C
ENST00000299427.10:c.1094G>C	ENSP00000299427.6:p.Cys365Ser
ENST00000524924.1:n.49G>C
ENST00000533371.5:c.365G>C	ENSP00000437066.1:p.Cys122Ser
ENST00000611494.4:c.1094G>C	ENSP00000484546.1:p.Cys365Ser
NM_000391.3:c.1094G>C	NP_000382.3:p.Cys365Ser
NM_000391.4:c.1094G>C MANE Select	NP_000382.3:p.Cys365Ser