Canonical Allele Identifier: CA379474353

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637655A>G (hg19) ; chr11:g.6616424A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616424A>G , CM000673.2:g.6616424A>G	GRCh38
NC_000011.9:g.6637655A>G , CM000673.1:g.6637655A>G	GRCh37
NC_000011.8:g.6594231A>G	NCBI36
NG_008653.1:g.8038T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.852T>C	ENSP00000507321.1:p.Thr284=
ENST00000299427.12:c.966T>C MANE Select	ENSP00000299427.6:p.Thr322=
ENST00000436873.7:c.313-350T>C
ENST00000530040.2:n.559T>C
ENST00000533371.6:c.237T>C	ENSP00000437066.1:p.Thr79=
ENST00000642892.1:c.237T>C	ENSP00000494165.1:p.Thr79=
ENST00000643342.1:c.56T>C
ENST00000643439.1:c.*706T>C	ENSP00000495849.1:n.*706T>C
ENST00000643479.1:n.1152T>C
ENST00000643516.1:c.475T>C
ENST00000644218.1:c.886+237T>C	ENSP00000493574.1:n.886+237T>C
ENST00000644683.1:c.*419T>C	ENSP00000494085.1:n.*419T>C
ENST00000644810.1:c.687T>C	ENSP00000495895.1:p.Thr229=
ENST00000644831.1:n.1142T>C
ENST00000644933.1:c.237T>C	ENSP00000496133.1:p.Thr79=
ENST00000645285.1:c.157+237T>C	ENSP00000495058.1:n.157+237T>C
ENST00000645331.1:n.1489T>C
ENST00000645620.1:c.237T>C	ENSP00000493657.1:p.Thr79=
ENST00000646691.1:n.59T>C
ENST00000646777.1:n.1299T>C
ENST00000647016.1:n.1446T>C
ENST00000647152.1:c.237T>C	ENSP00000495893.1:p.Thr79=
ENST00000647209.1:c.*835T>C	ENSP00000495558.1:n.*835T>C
ENST00000647346.1:n.1986T>C
ENST00000299427.10:c.966T>C	ENSP00000299427.6:p.Thr322=
ENST00000436873.6:c.530T>C	ENSP00000398136.2:p.Leu177Pro
ENST00000533371.5:c.237T>C	ENSP00000437066.1:p.Thr79=
ENST00000611494.4:c.966T>C	ENSP00000484546.1:p.Thr322=
NM_000391.3:c.966T>C	NP_000382.3:p.Thr322=
NM_000391.4:c.966T>C MANE Select	NP_000382.3:p.Thr322=