Canonical Allele Identifier: CA379472666

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615247-G-A
• MyVariant Identifiers: chr11:g.6636478G>A (hg19) ; chr11:g.6615247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615247G>A , CM000673.2:g.6615247G>A	GRCh38
NC_000011.9:g.6636478G>A , CM000673.1:g.6636478G>A	GRCh37
NC_000011.8:g.6593054G>A	NCBI36
NG_008653.1:g.9215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1235C>T	ENSP00000507321.1:p.Pro412Leu
ENST00000299427.12:c.1349C>T MANE Select	ENSP00000299427.6:p.Pro450Leu
ENST00000524611.2:n.209C>T
ENST00000524924.2:n.469C>T
ENST00000533371.6:c.620C>T	ENSP00000437066.1:p.Pro207Leu
ENST00000642892.1:c.620C>T	ENSP00000494165.1:p.Pro207Leu
ENST00000643342.1:c.422C>T
ENST00000643439.1:c.*1089C>T	ENSP00000495849.1:n.*1089C>T
ENST00000643479.1:n.1535C>T
ENST00000643516.1:c.858C>T
ENST00000644218.1:c.1160C>T	ENSP00000493574.1:p.Pro387Leu
ENST00000644683.1:c.*802C>T	ENSP00000494085.1:n.*802C>T
ENST00000644810.1:c.1070C>T	ENSP00000495895.1:p.Pro357Leu
ENST00000644831.1:n.1525C>T
ENST00000644933.1:c.*215C>T	ENSP00000496133.1:n.*215C>T
ENST00000645285.1:c.*215C>T	ENSP00000495058.1:n.*215C>T
ENST00000645331.1:n.2554C>T
ENST00000645620.1:c.620C>T	ENSP00000493657.1:p.Pro207Leu
ENST00000646691.1:n.1236C>T
ENST00000646777.1:n.1682C>T
ENST00000647016.1:n.1829C>T
ENST00000647152.1:c.620C>T	ENSP00000495893.1:p.Pro207Leu
ENST00000647209.1:c.*1218C>T	ENSP00000495558.1:n.*1218C>T
ENST00000647346.1:n.2369C>T
ENST00000299427.10:c.1349C>T	ENSP00000299427.6:p.Pro450Leu
ENST00000524611.1:n.227C>T
ENST00000532191.1:n.402C>T
ENST00000533371.5:c.620C>T	ENSP00000437066.1:p.Pro207Leu
ENST00000611494.4:c.1349C>T	ENSP00000484546.1:p.Pro450Leu
NM_000391.3:c.1349C>T	NP_000382.3:p.Pro450Leu
NM_000391.4:c.1349C>T MANE Select	NP_000382.3:p.Pro450Leu