Canonical Allele Identifier: CA472922678

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637938C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616707C>A , CM000673.2:g.6616707C>A	GRCh38
NC_000011.9:g.6637938C>A , CM000673.1:g.6637938C>A	GRCh37
NC_000011.8:g.6594514C>A	NCBI36
NG_008653.1:g.7755G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.726G>T	ENSP00000507321.1:p.Leu242=
ENST00000299427.12:c.840G>T MANE Select	ENSP00000299427.6:p.Leu280=
ENST00000436873.7:c.312+594G>T
ENST00000524788.2:n.1999G>T
ENST00000524903.2:n.2115G>T
ENST00000528807.2:n.496G>T
ENST00000530040.2:n.480-204G>T
ENST00000533371.6:c.111G>T	ENSP00000437066.1:p.Leu37=
ENST00000642892.1:c.111G>T	ENSP00000494165.1:p.Leu37=
ENST00000643439.1:c.*580G>T	ENSP00000495849.1:n.*580G>T
ENST00000643479.1:n.869G>T
ENST00000643516.1:c.396-204G>T
ENST00000644151.1:n.2279G>T
ENST00000644218.1:c.840G>T	ENSP00000493574.1:p.Leu280=
ENST00000644683.1:c.*293G>T	ENSP00000494085.1:n.*293G>T
ENST00000644810.1:c.561G>T	ENSP00000495895.1:p.Leu187=
ENST00000644831.1:n.1016G>T
ENST00000644933.1:c.111G>T	ENSP00000496133.1:p.Leu37=
ENST00000645020.1:n.2130G>T
ENST00000645285.1:c.111G>T	ENSP00000495058.1:p.Leu37=
ENST00000645331.1:n.1206G>T
ENST00000645620.1:c.111G>T	ENSP00000493657.1:p.Leu37=
ENST00000646777.1:n.1016G>T
ENST00000647016.1:n.1320G>T
ENST00000647152.1:c.111G>T	ENSP00000495893.1:p.Leu37=
ENST00000647209.1:c.*709G>T	ENSP00000495558.1:n.*709G>T
ENST00000647346.1:n.1860G>T
ENST00000299427.10:c.840G>T	ENSP00000299427.6:p.Leu280=
ENST00000436873.6:c.451-204G>T	ENSP00000398136.2:n.451-204G>T
ENST00000524788.1:n.540G>T
ENST00000528807.1:n.390G>T
ENST00000533371.5:c.111G>T	ENSP00000437066.1:p.Leu37=
ENST00000611494.4:c.840G>T	ENSP00000484546.1:p.Leu280=
NM_000391.3:c.840G>T	NP_000382.3:p.Leu280=
NM_000391.4:c.840G>T MANE Select	NP_000382.3:p.Leu280=