Canonical Allele Identifier: CA217320765

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2121808
• ClinVar RCV Id: RCV003049341
• dbSNP Id: rs888341233
• MyVariant Identifiers: chr11:g.6635799A>G (hg19) ; chr11:g.6614568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614568A>G , CM000673.2:g.6614568A>G	GRCh38
NC_000011.9:g.6635799A>G , CM000673.1:g.6635799A>G	GRCh37
NC_000011.8:g.6592375A>G	NCBI36
NG_008653.1:g.9894T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1556T>C	ENSP00000507321.1:p.Leu519Pro
ENST00000299427.12:c.1670T>C MANE Select	ENSP00000299427.6:p.Leu557Pro
ENST00000524611.2:n.709T>C
ENST00000533371.6:c.941T>C	ENSP00000437066.1:p.Leu314Pro
ENST00000642892.1:c.941T>C	ENSP00000494165.1:p.Leu314Pro
ENST00000643342.1:c.743T>C
ENST00000643439.1:c.*1410T>C	ENSP00000495849.1:n.*1410T>C
ENST00000643479.1:n.1856T>C
ENST00000643516.1:c.1179T>C
ENST00000644218.1:c.1481T>C	ENSP00000493574.1:p.Leu494Pro
ENST00000644683.1:c.*1123T>C	ENSP00000494085.1:n.*1123T>C
ENST00000644810.1:c.1391T>C	ENSP00000495895.1:p.Leu464Pro
ENST00000644831.1:n.1846T>C
ENST00000644933.1:c.*536T>C	ENSP00000496133.1:n.*536T>C
ENST00000645285.1:c.*536T>C	ENSP00000495058.1:n.*536T>C
ENST00000645331.1:n.2875T>C
ENST00000645620.1:c.941T>C	ENSP00000493657.1:p.Leu314Pro
ENST00000646691.1:n.1557T>C
ENST00000646777.1:n.2003T>C
ENST00000647016.1:n.2150T>C
ENST00000647152.1:c.941T>C	ENSP00000495893.1:p.Leu314Pro
ENST00000647209.1:c.*1539T>C	ENSP00000495558.1:n.*1539T>C
ENST00000647346.1:n.2690T>C
ENST00000299427.10:c.1670T>C	ENSP00000299427.6:p.Leu557Pro
ENST00000533371.5:c.941T>C	ENSP00000437066.1:p.Leu314Pro
ENST00000611494.4:c.1669T>C	ENSP00000484546.1:p.Ter557Arg
NM_000391.3:c.1670T>C	NP_000382.3:p.Leu557Pro
NM_000391.4:c.1670T>C MANE Select	NP_000382.3:p.Leu557Pro