Canonical Allele Identifier: CA472922753

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637998C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616767C>A , CM000673.2:g.6616767C>A	GRCh38
NC_000011.9:g.6637998C>A , CM000673.1:g.6637998C>A	GRCh37
NC_000011.8:g.6594574C>A	NCBI36
NG_008653.1:g.7695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.666G>T	ENSP00000507321.1:p.Val222=
ENST00000299427.12:c.780G>T MANE Select	ENSP00000299427.6:p.Val260=
ENST00000436873.7:c.312+534G>T
ENST00000524788.2:n.1939G>T
ENST00000524903.2:n.2055G>T
ENST00000528807.2:n.436G>T
ENST00000530040.2:n.480-264G>T
ENST00000533371.6:c.51G>T	ENSP00000437066.1:p.Val17=
ENST00000642892.1:c.51G>T	ENSP00000494165.1:p.Val17=
ENST00000643439.1:c.*520G>T	ENSP00000495849.1:n.*520G>T
ENST00000643479.1:n.809G>T
ENST00000643516.1:c.396-264G>T
ENST00000644151.1:n.2219G>T
ENST00000644218.1:c.780G>T	ENSP00000493574.1:p.Val260=
ENST00000644683.1:c.*233G>T	ENSP00000494085.1:n.*233G>T
ENST00000644810.1:c.501G>T	ENSP00000495895.1:p.Val167=
ENST00000644831.1:n.956G>T
ENST00000644933.1:c.51G>T	ENSP00000496133.1:p.Val17=
ENST00000645020.1:n.2070G>T
ENST00000645285.1:c.51G>T	ENSP00000495058.1:p.Val17=
ENST00000645331.1:n.1146G>T
ENST00000645620.1:c.51G>T	ENSP00000493657.1:p.Val17=
ENST00000646777.1:n.956G>T
ENST00000647016.1:n.1260G>T
ENST00000647152.1:c.51G>T	ENSP00000495893.1:p.Val17=
ENST00000647209.1:c.*649G>T	ENSP00000495558.1:n.*649G>T
ENST00000647346.1:n.1800G>T
ENST00000299427.10:c.780G>T	ENSP00000299427.6:p.Val260=
ENST00000436873.6:c.451-264G>T	ENSP00000398136.2:n.451-264G>T
ENST00000524788.1:n.480G>T
ENST00000528807.1:n.330G>T
ENST00000533371.5:c.51G>T	ENSP00000437066.1:p.Val17=
ENST00000611494.4:c.780G>T	ENSP00000484546.1:p.Val260=
NM_000391.3:c.780G>T	NP_000382.3:p.Val260=
NM_000391.4:c.780G>T MANE Select	NP_000382.3:p.Val260=