Canonical Allele Identifier: CA379472080

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614619-G-A
• MyVariant Identifiers: chr11:g.6635850G>A (hg19) ; chr11:g.6614619G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614619G>A , CM000673.2:g.6614619G>A	GRCh38
NC_000011.9:g.6635850G>A , CM000673.1:g.6635850G>A	GRCh37
NC_000011.8:g.6592426G>A	NCBI36
NG_008653.1:g.9843C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1505C>T	ENSP00000507321.1:p.Pro502Leu
ENST00000299427.12:c.1619C>T MANE Select	ENSP00000299427.6:p.Pro540Leu
ENST00000524611.2:n.658C>T
ENST00000524924.2:n.739C>T
ENST00000533371.6:c.890C>T	ENSP00000437066.1:p.Pro297Leu
ENST00000642892.1:c.890C>T	ENSP00000494165.1:p.Pro297Leu
ENST00000643342.1:c.692C>T
ENST00000643439.1:c.*1359C>T	ENSP00000495849.1:n.*1359C>T
ENST00000643479.1:n.1805C>T
ENST00000643516.1:c.1128C>T
ENST00000644218.1:c.1430C>T	ENSP00000493574.1:p.Pro477Leu
ENST00000644683.1:c.*1072C>T	ENSP00000494085.1:n.*1072C>T
ENST00000644810.1:c.1340C>T	ENSP00000495895.1:p.Pro447Leu
ENST00000644831.1:n.1795C>T
ENST00000644933.1:c.*485C>T	ENSP00000496133.1:n.*485C>T
ENST00000645285.1:c.*485C>T	ENSP00000495058.1:n.*485C>T
ENST00000645331.1:n.2824C>T
ENST00000645620.1:c.890C>T	ENSP00000493657.1:p.Pro297Leu
ENST00000646691.1:n.1506C>T
ENST00000646777.1:n.1952C>T
ENST00000647016.1:n.2099C>T
ENST00000647152.1:c.890C>T	ENSP00000495893.1:p.Pro297Leu
ENST00000647209.1:c.*1488C>T	ENSP00000495558.1:n.*1488C>T
ENST00000647346.1:n.2639C>T
ENST00000299427.10:c.1619C>T	ENSP00000299427.6:p.Pro540Leu
ENST00000533371.5:c.890C>T	ENSP00000437066.1:p.Pro297Leu
ENST00000611494.4:c.1619C>T	ENSP00000484546.1:p.Pro540Leu
NM_000391.3:c.1619C>T	NP_000382.3:p.Pro540Leu
NM_000391.4:c.1619C>T MANE Select	NP_000382.3:p.Pro540Leu