Canonical Allele Identifier: CA379474216

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637624T>C (hg19) ; chr11:g.6616393T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616393T>C , CM000673.2:g.6616393T>C	GRCh38
NC_000011.9:g.6637624T>C , CM000673.1:g.6637624T>C	GRCh37
NC_000011.8:g.6594200T>C	NCBI36
NG_008653.1:g.8069A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.883A>G	ENSP00000507321.1:p.Ser295Gly
ENST00000299427.12:c.997A>G MANE Select	ENSP00000299427.6:p.Ser333Gly
ENST00000436873.7:c.313-319A>G
ENST00000533371.6:c.268A>G	ENSP00000437066.1:p.Ser90Gly
ENST00000642892.1:c.268A>G	ENSP00000494165.1:p.Ser90Gly
ENST00000643342.1:c.87A>G
ENST00000643439.1:c.*737A>G	ENSP00000495849.1:n.*737A>G
ENST00000643479.1:n.1183A>G
ENST00000643516.1:c.506A>G
ENST00000644218.1:c.886+268A>G	ENSP00000493574.1:n.886+268A>G
ENST00000644683.1:c.*450A>G	ENSP00000494085.1:n.*450A>G
ENST00000644810.1:c.718A>G	ENSP00000495895.1:p.Ser240Gly
ENST00000644831.1:n.1173A>G
ENST00000644933.1:c.268A>G	ENSP00000496133.1:p.Ser90Gly
ENST00000645285.1:c.157+268A>G	ENSP00000495058.1:n.157+268A>G
ENST00000645331.1:n.1520A>G
ENST00000645620.1:c.268A>G	ENSP00000493657.1:p.Ser90Gly
ENST00000646691.1:n.90A>G
ENST00000646777.1:n.1330A>G
ENST00000647016.1:n.1477A>G
ENST00000647152.1:c.268A>G	ENSP00000495893.1:p.Ser90Gly
ENST00000647209.1:c.*866A>G	ENSP00000495558.1:n.*866A>G
ENST00000647346.1:n.2017A>G
ENST00000299427.10:c.997A>G	ENSP00000299427.6:p.Ser333Gly
ENST00000533371.5:c.268A>G	ENSP00000437066.1:p.Ser90Gly
ENST00000611494.4:c.997A>G	ENSP00000484546.1:p.Ser333Gly
NM_000391.3:c.997A>G	NP_000382.3:p.Ser333Gly
NM_000391.4:c.997A>G MANE Select	NP_000382.3:p.Ser333Gly