Canonical Allele Identifier: CA379474430

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616438-G-T
• MyVariant Identifiers: chr11:g.6637669G>T (hg19) ; chr11:g.6616438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616438G>T , CM000673.2:g.6616438G>T	GRCh38
NC_000011.9:g.6637669G>T , CM000673.1:g.6637669G>T	GRCh37
NC_000011.8:g.6594245G>T	NCBI36
NG_008653.1:g.8024C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.838C>A	ENSP00000507321.1:p.Pro280Thr
ENST00000299427.12:c.952C>A MANE Select	ENSP00000299427.6:p.Pro318Thr
ENST00000436873.7:c.313-364C>A
ENST00000530040.2:n.545C>A
ENST00000533371.6:c.223C>A	ENSP00000437066.1:p.Pro75Thr
ENST00000642892.1:c.223C>A	ENSP00000494165.1:p.Pro75Thr
ENST00000643342.1:c.42C>A
ENST00000643439.1:c.*692C>A	ENSP00000495849.1:n.*692C>A
ENST00000643479.1:n.1138C>A
ENST00000643516.1:c.461C>A
ENST00000644218.1:c.886+223C>A	ENSP00000493574.1:n.886+223C>A
ENST00000644683.1:c.*405C>A	ENSP00000494085.1:n.*405C>A
ENST00000644810.1:c.673C>A	ENSP00000495895.1:p.Pro225Thr
ENST00000644831.1:n.1128C>A
ENST00000644933.1:c.223C>A	ENSP00000496133.1:p.Pro75Thr
ENST00000645285.1:c.157+223C>A	ENSP00000495058.1:n.157+223C>A
ENST00000645331.1:n.1475C>A
ENST00000645620.1:c.223C>A	ENSP00000493657.1:p.Pro75Thr
ENST00000646691.1:n.45C>A
ENST00000646777.1:n.1285C>A
ENST00000647016.1:n.1432C>A
ENST00000647152.1:c.223C>A	ENSP00000495893.1:p.Pro75Thr
ENST00000647209.1:c.*821C>A	ENSP00000495558.1:n.*821C>A
ENST00000647346.1:n.1972C>A
ENST00000299427.10:c.952C>A	ENSP00000299427.6:p.Pro318Thr
ENST00000436873.6:c.516C>A	ENSP00000398136.2:p.Cys172Ter
ENST00000533371.5:c.223C>A	ENSP00000437066.1:p.Pro75Thr
ENST00000611494.4:c.952C>A	ENSP00000484546.1:p.Pro318Thr
NM_000391.3:c.952C>A	NP_000382.3:p.Pro318Thr
NM_000391.4:c.952C>A MANE Select	NP_000382.3:p.Pro318Thr