Canonical Allele Identifier: CA379472092

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2136995
• ClinVar RCV Id: RCV003062332
• MyVariant Identifiers: chr11:g.6635856G>T (hg19) ; chr11:g.6614625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614625G>T , CM000673.2:g.6614625G>T	GRCh38
NC_000011.9:g.6635856G>T , CM000673.1:g.6635856G>T	GRCh37
NC_000011.8:g.6592432G>T	NCBI36
NG_008653.1:g.9837C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1499C>A	ENSP00000507321.1:p.Ser500Tyr
ENST00000299427.12:c.1613C>A MANE Select	ENSP00000299427.6:p.Ser538Tyr
ENST00000524611.2:n.652C>A
ENST00000524924.2:n.733C>A
ENST00000533371.6:c.884C>A	ENSP00000437066.1:p.Ser295Tyr
ENST00000642892.1:c.884C>A	ENSP00000494165.1:p.Ser295Tyr
ENST00000643342.1:c.686C>A
ENST00000643439.1:c.*1353C>A	ENSP00000495849.1:n.*1353C>A
ENST00000643479.1:n.1799C>A
ENST00000643516.1:c.1122C>A
ENST00000644218.1:c.1424C>A	ENSP00000493574.1:p.Ser475Tyr
ENST00000644683.1:c.*1066C>A	ENSP00000494085.1:n.*1066C>A
ENST00000644810.1:c.1334C>A	ENSP00000495895.1:p.Ser445Tyr
ENST00000644831.1:n.1789C>A
ENST00000644933.1:c.*479C>A	ENSP00000496133.1:n.*479C>A
ENST00000645285.1:c.*479C>A	ENSP00000495058.1:n.*479C>A
ENST00000645331.1:n.2818C>A
ENST00000645620.1:c.884C>A	ENSP00000493657.1:p.Ser295Tyr
ENST00000646691.1:n.1500C>A
ENST00000646777.1:n.1946C>A
ENST00000647016.1:n.2093C>A
ENST00000647152.1:c.884C>A	ENSP00000495893.1:p.Ser295Tyr
ENST00000647209.1:c.*1482C>A	ENSP00000495558.1:n.*1482C>A
ENST00000647346.1:n.2633C>A
ENST00000299427.10:c.1613C>A	ENSP00000299427.6:p.Ser538Tyr
ENST00000533371.5:c.884C>A	ENSP00000437066.1:p.Ser295Tyr
ENST00000611494.4:c.1613C>A	ENSP00000484546.1:p.Ser538Tyr
NM_000391.3:c.1613C>A	NP_000382.3:p.Ser538Tyr
NM_000391.4:c.1613C>A MANE Select	NP_000382.3:p.Ser538Tyr