Canonical Allele Identifier: CA379474812

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616666-C-G
• MyVariant Identifiers: chr11:g.6637897C>G (hg19) ; chr11:g.6616666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616666C>G , CM000673.2:g.6616666C>G	GRCh38
NC_000011.9:g.6637897C>G , CM000673.1:g.6637897C>G	GRCh37
NC_000011.8:g.6594473C>G	NCBI36
NG_008653.1:g.7796G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.767G>C	ENSP00000507321.1:p.Ser256Thr
ENST00000299427.12:c.881G>C MANE Select	ENSP00000299427.6:p.Ser294Thr
ENST00000436873.7:c.313-592G>C
ENST00000524788.2:n.2040G>C
ENST00000524903.2:n.2156G>C
ENST00000528807.2:n.537G>C
ENST00000530040.2:n.480-163G>C
ENST00000533371.6:c.152G>C	ENSP00000437066.1:p.Ser51Thr
ENST00000642892.1:c.152G>C	ENSP00000494165.1:p.Ser51Thr
ENST00000643439.1:c.*621G>C	ENSP00000495849.1:n.*621G>C
ENST00000643479.1:n.910G>C
ENST00000643516.1:c.396-163G>C
ENST00000644151.1:n.2320G>C
ENST00000644218.1:c.881G>C	ENSP00000493574.1:p.Ser294Thr
ENST00000644683.1:c.*334G>C	ENSP00000494085.1:n.*334G>C
ENST00000644810.1:c.602G>C	ENSP00000495895.1:p.Ser201Thr
ENST00000644831.1:n.1057G>C
ENST00000644933.1:c.152G>C	ENSP00000496133.1:p.Ser51Thr
ENST00000645020.1:n.2171G>C
ENST00000645285.1:c.152G>C	ENSP00000495058.1:p.Ser51Thr
ENST00000645331.1:n.1247G>C
ENST00000645620.1:c.152G>C	ENSP00000493657.1:p.Ser51Thr
ENST00000646777.1:n.1057G>C
ENST00000647016.1:n.1361G>C
ENST00000647152.1:c.152G>C	ENSP00000495893.1:p.Ser51Thr
ENST00000647209.1:c.*750G>C	ENSP00000495558.1:n.*750G>C
ENST00000647346.1:n.1901G>C
ENST00000299427.10:c.881G>C	ENSP00000299427.6:p.Ser294Thr
ENST00000436873.6:c.451-163G>C	ENSP00000398136.2:n.451-163G>C
ENST00000528807.1:n.431G>C
ENST00000533371.5:c.152G>C	ENSP00000437066.1:p.Ser51Thr
ENST00000611494.4:c.881G>C	ENSP00000484546.1:p.Ser294Thr
NM_000391.3:c.881G>C	NP_000382.3:p.Ser294Thr
NM_000391.4:c.881G>C MANE Select	NP_000382.3:p.Ser294Thr