Canonical Allele Identifier: CA379475488

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638297C>G (hg19) ; chr11:g.6617066C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617066C>G , CM000673.2:g.6617066C>G	GRCh38
NC_000011.9:g.6638297C>G , CM000673.1:g.6638297C>G	GRCh37
NC_000011.8:g.6594873C>G	NCBI36
NG_008653.1:g.7396G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.482G>C	ENSP00000507321.1:p.Gly161Ala
ENST00000299427.12:c.596G>C MANE Select	ENSP00000299427.6:p.Gly199Ala
ENST00000428886.7:n.831G>C
ENST00000436873.7:c.312+235G>C
ENST00000524788.2:n.1755G>C
ENST00000524903.2:n.1871G>C
ENST00000528807.2:n.252G>C
ENST00000530040.2:n.479+293G>C
ENST00000533371.6:c.-134G>C	ENSP00000437066.1:n.-134G>C
ENST00000534644.6:n.544G>C
ENST00000642892.1:c.-134G>C	ENSP00000494165.1:n.-134G>C
ENST00000643439.1:c.*336G>C	ENSP00000495849.1:n.*336G>C
ENST00000643479.1:n.625G>C
ENST00000643516.1:c.395+235G>C
ENST00000644151.1:n.2035G>C
ENST00000644218.1:c.596G>C	ENSP00000493574.1:p.Gly199Ala
ENST00000644683.1:c.*49G>C	ENSP00000494085.1:n.*49G>C
ENST00000644810.1:c.317G>C	ENSP00000495895.1:p.Gly106Ala
ENST00000644831.1:n.772G>C
ENST00000644933.1:c.-134G>C	ENSP00000496133.1:n.-134G>C
ENST00000645020.1:n.1771G>C
ENST00000645285.1:c.-134G>C	ENSP00000495058.1:n.-134G>C
ENST00000645331.1:n.962G>C
ENST00000645620.1:c.-134G>C	ENSP00000493657.1:n.-134G>C
ENST00000646777.1:n.772G>C
ENST00000647016.1:n.1076G>C
ENST00000647152.1:c.-134G>C	ENSP00000495893.1:n.-134G>C
ENST00000647209.1:c.*465G>C	ENSP00000495558.1:n.*465G>C
ENST00000647346.1:n.1616G>C
ENST00000299427.10:c.596G>C	ENSP00000299427.6:p.Gly199Ala
ENST00000428886.6:n.765G>C
ENST00000436873.6:c.450+293G>C	ENSP00000398136.2:n.450+293G>C
ENST00000524788.1:n.296G>C
ENST00000528571.5:c.*336G>C	ENSP00000434647.1:n.*336G>C
ENST00000528807.1:n.146G>C
ENST00000533371.5:c.-134G>C	ENSP00000437066.1:n.-134G>C
ENST00000534644.5:n.581G>C
ENST00000611494.4:c.596G>C	ENSP00000484546.1:p.Gly199Ala
NM_000391.3:c.596G>C	NP_000382.3:p.Gly199Ala
NM_000391.4:c.596G>C MANE Select	NP_000382.3:p.Gly199Ala