Canonical Allele Identifier: CA379476527

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1009213
• ClinVar RCV Id: RCV001306669
• dbSNP Id: rs1855608483
• MyVariant Identifiers: chr11:g.6638965G>A (hg19) ; chr11:g.6617734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617734G>A , CM000673.2:g.6617734G>A	GRCh38
NC_000011.9:g.6638965G>A , CM000673.1:g.6638965G>A	GRCh37
NC_000011.8:g.6595541G>A	NCBI36
NG_008653.1:g.6728C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.158C>T	ENSP00000507321.1:p.Pro53Leu
ENST00000299427.12:c.272C>T MANE Select	ENSP00000299427.6:p.Pro91Leu
ENST00000428886.7:n.360C>T
ENST00000436873.7:c.76C>T
ENST00000524788.2:n.1284C>T
ENST00000524903.2:n.1400C>T
ENST00000528571.6:c.*12C>T	ENSP00000434647.1:n.*12C>T
ENST00000530040.2:n.301C>T
ENST00000533371.6:c.-458C>T	ENSP00000437066.1:n.-458C>T
ENST00000534644.6:n.273C>T
ENST00000642892.1:c.-405C>T	ENSP00000494165.1:n.-405C>T
ENST00000643439.1:c.*12C>T	ENSP00000495849.1:n.*12C>T
ENST00000643479.1:n.301C>T
ENST00000643516.1:c.159C>T
ENST00000644151.1:n.1564C>T
ENST00000644218.1:c.272C>T	ENSP00000493574.1:p.Pro91Leu
ENST00000644683.1:c.272C>T	ENSP00000494085.1:p.Pro91Leu
ENST00000644810.1:c.230-581C>T	ENSP00000495895.1:n.230-581C>T
ENST00000644831.1:n.301C>T
ENST00000644933.1:c.-458C>T	ENSP00000496133.1:n.-458C>T
ENST00000645020.1:n.1300C>T
ENST00000645285.1:c.-458C>T	ENSP00000495058.1:n.-458C>T
ENST00000645331.1:n.294C>T
ENST00000645620.1:c.-400C>T	ENSP00000493657.1:n.-400C>T
ENST00000646777.1:n.301C>T
ENST00000647016.1:n.605C>T
ENST00000647152.1:c.-458C>T	ENSP00000495893.1:n.-458C>T
ENST00000647209.1:c.*141C>T	ENSP00000495558.1:n.*141C>T
ENST00000647346.1:n.1292C>T
ENST00000299427.10:c.272C>T	ENSP00000299427.6:p.Pro91Leu
ENST00000428886.6:n.294C>T
ENST00000436873.6:c.272C>T	ENSP00000398136.2:p.Pro91Leu
ENST00000528571.5:c.*12C>T	ENSP00000434647.1:n.*12C>T
ENST00000530040.1:n.384C>T
ENST00000533371.5:c.-458C>T	ENSP00000437066.1:n.-458C>T
ENST00000534644.5:n.257C>T
ENST00000611494.4:c.272C>T	ENSP00000484546.1:p.Pro91Leu
NM_000391.3:c.272C>T	NP_000382.3:p.Pro91Leu
NM_000391.4:c.272C>T MANE Select	NP_000382.3:p.Pro91Leu