Canonical Allele Identifier: CA379471952

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1401392
• ClinVar RCV Id: RCV001911784
• dbSNP Id: rs2134590280
• MyVariant Identifiers: chr11:g.6635795C>G (hg19) ; chr11:g.6614564C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614564C>G , CM000673.2:g.6614564C>G	GRCh38
NC_000011.9:g.6635795C>G , CM000673.1:g.6635795C>G	GRCh37
NC_000011.8:g.6592371C>G	NCBI36
NG_008653.1:g.9898G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1560G>C	ENSP00000507321.1:p.Lys520Asn
ENST00000299427.12:c.1674G>C MANE Select	ENSP00000299427.6:p.Lys558Asn
ENST00000524611.2:n.713G>C
ENST00000533371.6:c.945G>C	ENSP00000437066.1:p.Lys315Asn
ENST00000642892.1:c.945G>C	ENSP00000494165.1:p.Lys315Asn
ENST00000643342.1:c.747G>C
ENST00000643439.1:c.*1414G>C	ENSP00000495849.1:n.*1414G>C
ENST00000643479.1:n.1860G>C
ENST00000643516.1:c.1183G>C
ENST00000644218.1:c.1485G>C	ENSP00000493574.1:p.Lys495Asn
ENST00000644683.1:c.*1127G>C	ENSP00000494085.1:n.*1127G>C
ENST00000644810.1:c.1395G>C	ENSP00000495895.1:p.Lys465Asn
ENST00000644831.1:n.1850G>C
ENST00000644933.1:c.*540G>C	ENSP00000496133.1:n.*540G>C
ENST00000645285.1:c.*540G>C	ENSP00000495058.1:n.*540G>C
ENST00000645331.1:n.2879G>C
ENST00000645620.1:c.945G>C	ENSP00000493657.1:p.Lys315Asn
ENST00000646691.1:n.1561G>C
ENST00000646777.1:n.2007G>C
ENST00000647016.1:n.2154G>C
ENST00000647152.1:c.945G>C	ENSP00000495893.1:p.Lys315Asn
ENST00000647209.1:c.*1543G>C	ENSP00000495558.1:n.*1543G>C
ENST00000647346.1:n.2694G>C
ENST00000299427.10:c.1674G>C	ENSP00000299427.6:p.Lys558Asn
ENST00000533371.5:c.945G>C	ENSP00000437066.1:p.Lys315Asn
ENST00000611494.4:c.*2G>C	ENSP00000484546.1:n.*2G>C
NM_000391.3:c.1674G>C	NP_000382.3:p.Lys558Asn
NM_000391.4:c.1674G>C MANE Select	NP_000382.3:p.Lys558Asn