Canonical Allele Identifier: CA379474912

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637920G>C (hg19) ; chr11:g.6616689G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616689G>C , CM000673.2:g.6616689G>C	GRCh38
NC_000011.9:g.6637920G>C , CM000673.1:g.6637920G>C	GRCh37
NC_000011.8:g.6594496G>C	NCBI36
NG_008653.1:g.7773C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.744C>G	ENSP00000507321.1:p.Asn248Lys
ENST00000299427.12:c.858C>G MANE Select	ENSP00000299427.6:p.Asn286Lys
ENST00000436873.7:c.312+612C>G
ENST00000524788.2:n.2017C>G
ENST00000524903.2:n.2133C>G
ENST00000528807.2:n.514C>G
ENST00000530040.2:n.480-186C>G
ENST00000533371.6:c.129C>G	ENSP00000437066.1:p.Asn43Lys
ENST00000642892.1:c.129C>G	ENSP00000494165.1:p.Asn43Lys
ENST00000643439.1:c.*598C>G	ENSP00000495849.1:n.*598C>G
ENST00000643479.1:n.887C>G
ENST00000643516.1:c.396-186C>G
ENST00000644151.1:n.2297C>G
ENST00000644218.1:c.858C>G	ENSP00000493574.1:p.Asn286Lys
ENST00000644683.1:c.*311C>G	ENSP00000494085.1:n.*311C>G
ENST00000644810.1:c.579C>G	ENSP00000495895.1:p.Asn193Lys
ENST00000644831.1:n.1034C>G
ENST00000644933.1:c.129C>G	ENSP00000496133.1:p.Asn43Lys
ENST00000645020.1:n.2148C>G
ENST00000645285.1:c.129C>G	ENSP00000495058.1:p.Asn43Lys
ENST00000645331.1:n.1224C>G
ENST00000645620.1:c.129C>G	ENSP00000493657.1:p.Asn43Lys
ENST00000646777.1:n.1034C>G
ENST00000647016.1:n.1338C>G
ENST00000647152.1:c.129C>G	ENSP00000495893.1:p.Asn43Lys
ENST00000647209.1:c.*727C>G	ENSP00000495558.1:n.*727C>G
ENST00000647346.1:n.1878C>G
ENST00000299427.10:c.858C>G	ENSP00000299427.6:p.Asn286Lys
ENST00000436873.6:c.451-186C>G	ENSP00000398136.2:n.451-186C>G
ENST00000528807.1:n.408C>G
ENST00000533371.5:c.129C>G	ENSP00000437066.1:p.Asn43Lys
ENST00000611494.4:c.858C>G	ENSP00000484546.1:p.Asn286Lys
NM_000391.3:c.858C>G	NP_000382.3:p.Asn286Lys
NM_000391.4:c.858C>G MANE Select	NP_000382.3:p.Asn286Lys