Canonical Allele Identifier: CA379475384

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2803181
• ClinVar RCV Id: RCV003679375
• MyVariant Identifiers: chr11:g.6638244C>T (hg19) ; chr11:g.6617013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617013C>T , CM000673.2:g.6617013C>T	GRCh38
NC_000011.9:g.6638244C>T , CM000673.1:g.6638244C>T	GRCh37
NC_000011.8:g.6594820C>T	NCBI36
NG_008653.1:g.7449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.535G>A	ENSP00000507321.1:p.Gly179Ser
ENST00000299427.12:c.649G>A MANE Select	ENSP00000299427.6:p.Gly217Ser
ENST00000436873.7:c.312+288G>A
ENST00000524788.2:n.1808G>A
ENST00000524903.2:n.1924G>A
ENST00000528807.2:n.305G>A
ENST00000530040.2:n.479+346G>A
ENST00000533371.6:c.-81G>A	ENSP00000437066.1:n.-81G>A
ENST00000534644.6:n.597G>A
ENST00000642892.1:c.-81G>A	ENSP00000494165.1:n.-81G>A
ENST00000643439.1:c.*389G>A	ENSP00000495849.1:n.*389G>A
ENST00000643479.1:n.678G>A
ENST00000643516.1:c.395+288G>A
ENST00000644151.1:n.2088G>A
ENST00000644218.1:c.649G>A	ENSP00000493574.1:p.Gly217Ser
ENST00000644683.1:c.*102G>A	ENSP00000494085.1:n.*102G>A
ENST00000644810.1:c.370G>A	ENSP00000495895.1:p.Gly124Ser
ENST00000644831.1:n.825G>A
ENST00000644933.1:c.-81G>A	ENSP00000496133.1:n.-81G>A
ENST00000645020.1:n.1824G>A
ENST00000645285.1:c.-81G>A	ENSP00000495058.1:n.-81G>A
ENST00000645331.1:n.1015G>A
ENST00000645620.1:c.-81G>A	ENSP00000493657.1:n.-81G>A
ENST00000646777.1:n.825G>A
ENST00000647016.1:n.1129G>A
ENST00000647152.1:c.-81G>A	ENSP00000495893.1:n.-81G>A
ENST00000647209.1:c.*518G>A	ENSP00000495558.1:n.*518G>A
ENST00000647346.1:n.1669G>A
ENST00000299427.10:c.649G>A	ENSP00000299427.6:p.Gly217Ser
ENST00000428886.6:n.818G>A
ENST00000436873.6:c.450+346G>A	ENSP00000398136.2:n.450+346G>A
ENST00000524788.1:n.349G>A
ENST00000528571.5:c.*389G>A	ENSP00000434647.1:n.*389G>A
ENST00000528807.1:n.199G>A
ENST00000533371.5:c.-81G>A	ENSP00000437066.1:n.-81G>A
ENST00000534644.5:n.634G>A
ENST00000611494.4:c.649G>A	ENSP00000484546.1:p.Gly217Ser
NM_000391.3:c.649G>A	NP_000382.3:p.Gly217Ser
NM_000391.4:c.649G>A MANE Select	NP_000382.3:p.Gly217Ser