Canonical Allele Identifier: CA472771567

Gene: TPP1

Linked Data

• dbSNP Id: rs1855565991
• MyVariant Identifiers: chr11:g.6636697A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615466A>G , CM000673.2:g.6615466A>G	GRCh38
NC_000011.9:g.6636697A>G , CM000673.1:g.6636697A>G	GRCh37
NC_000011.8:g.6593273A>G	NCBI36
NG_008653.1:g.8996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1128T>C	ENSP00000507321.1:p.Asn376=
ENST00000299427.12:c.1242T>C MANE Select	ENSP00000299427.6:p.Asn414=
ENST00000436873.7:c.479T>C
ENST00000524924.2:n.362T>C
ENST00000533371.6:c.513T>C	ENSP00000437066.1:p.Asn171=
ENST00000642892.1:c.513T>C	ENSP00000494165.1:p.Asn171=
ENST00000643342.1:c.315T>C
ENST00000643439.1:c.*982T>C	ENSP00000495849.1:n.*982T>C
ENST00000643479.1:n.1428T>C
ENST00000643516.1:c.751T>C
ENST00000644218.1:c.1053T>C	ENSP00000493574.1:p.Asn351=
ENST00000644683.1:c.*695T>C	ENSP00000494085.1:n.*695T>C
ENST00000644810.1:c.963T>C	ENSP00000495895.1:p.Asn321=
ENST00000644831.1:n.1418T>C
ENST00000644933.1:c.*108T>C	ENSP00000496133.1:n.*108T>C
ENST00000645285.1:c.*108T>C	ENSP00000495058.1:n.*108T>C
ENST00000645331.1:n.2447T>C
ENST00000645620.1:c.513T>C	ENSP00000493657.1:p.Asn171=
ENST00000646691.1:n.1017T>C
ENST00000646777.1:n.1575T>C
ENST00000647016.1:n.1722T>C
ENST00000647152.1:c.513T>C	ENSP00000495893.1:p.Asn171=
ENST00000647209.1:c.*1111T>C	ENSP00000495558.1:n.*1111T>C
ENST00000647346.1:n.2262T>C
ENST00000299427.10:c.1242T>C	ENSP00000299427.6:p.Asn414=
ENST00000524611.1:n.8T>C
ENST00000524924.1:n.197T>C
ENST00000532191.1:n.295T>C
ENST00000533371.5:c.513T>C	ENSP00000437066.1:p.Asn171=
ENST00000611494.4:c.1242T>C	ENSP00000484546.1:p.Asn414=
NM_000391.3:c.1242T>C	NP_000382.3:p.Asn414=
NM_000391.4:c.1242T>C MANE Select	NP_000382.3:p.Asn414=