Canonical Allele Identifier: CA379475088

Gene: TPP1

Linked Data

• ClinVar Variation Id: 937857
• ClinVar RCV Id: RCV001206968
• dbSNP Id: rs1855592111
• MyVariant Identifiers: chr11:g.6638000C>G (hg19) ; chr11:g.6616769C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616769C>G , CM000673.2:g.6616769C>G	GRCh38
NC_000011.9:g.6638000C>G , CM000673.1:g.6638000C>G	GRCh37
NC_000011.8:g.6594576C>G	NCBI36
NG_008653.1:g.7693G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.664G>C	ENSP00000507321.1:p.Val222Leu
ENST00000299427.12:c.778G>C MANE Select	ENSP00000299427.6:p.Val260Leu
ENST00000436873.7:c.312+532G>C
ENST00000524788.2:n.1937G>C
ENST00000524903.2:n.2053G>C
ENST00000528807.2:n.434G>C
ENST00000530040.2:n.480-266G>C
ENST00000533371.6:c.49G>C	ENSP00000437066.1:p.Val17Leu
ENST00000642892.1:c.49G>C	ENSP00000494165.1:p.Val17Leu
ENST00000643439.1:c.*518G>C	ENSP00000495849.1:n.*518G>C
ENST00000643479.1:n.807G>C
ENST00000643516.1:c.396-266G>C
ENST00000644151.1:n.2217G>C
ENST00000644218.1:c.778G>C	ENSP00000493574.1:p.Val260Leu
ENST00000644683.1:c.*231G>C	ENSP00000494085.1:n.*231G>C
ENST00000644810.1:c.499G>C	ENSP00000495895.1:p.Val167Leu
ENST00000644831.1:n.954G>C
ENST00000644933.1:c.49G>C	ENSP00000496133.1:p.Val17Leu
ENST00000645020.1:n.2068G>C
ENST00000645285.1:c.49G>C	ENSP00000495058.1:p.Val17Leu
ENST00000645331.1:n.1144G>C
ENST00000645620.1:c.49G>C	ENSP00000493657.1:p.Val17Leu
ENST00000646777.1:n.954G>C
ENST00000647016.1:n.1258G>C
ENST00000647152.1:c.49G>C	ENSP00000495893.1:p.Val17Leu
ENST00000647209.1:c.*647G>C	ENSP00000495558.1:n.*647G>C
ENST00000647346.1:n.1798G>C
ENST00000299427.10:c.778G>C	ENSP00000299427.6:p.Val260Leu
ENST00000436873.6:c.451-266G>C	ENSP00000398136.2:n.451-266G>C
ENST00000524788.1:n.478G>C
ENST00000528807.1:n.328G>C
ENST00000533371.5:c.49G>C	ENSP00000437066.1:p.Val17Leu
ENST00000611494.4:c.778G>C	ENSP00000484546.1:p.Val260Leu
NM_000391.3:c.778G>C	NP_000382.3:p.Val260Leu
NM_000391.4:c.778G>C MANE Select	NP_000382.3:p.Val260Leu