Canonical Allele Identifier: CA5858667

Gene: TPP1

Linked Data

• dbSNP Id: rs747773491
• ExAC: 11:6636409 C / G
• gnomAD v2: 11-6636409-C-G
• gnomAD v4: 11-6615178-C-G
• MyVariant Identifiers: chr11:g.6636409C>G (hg19) ; chr11:g.6615178C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615178C>G , CM000673.2:g.6615178C>G	GRCh38
NC_000011.9:g.6636409C>G , CM000673.1:g.6636409C>G	GRCh37
NC_000011.8:g.6592985C>G	NCBI36
NG_008653.1:g.9284G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1304G>C	ENSP00000507321.1:p.Gly435Ala
ENST00000299427.12:c.1418G>C MANE Select	ENSP00000299427.6:p.Gly473Ala
ENST00000524611.2:n.278G>C
ENST00000524924.2:n.538G>C
ENST00000533371.6:c.689G>C	ENSP00000437066.1:p.Gly230Ala
ENST00000642892.1:c.689G>C	ENSP00000494165.1:p.Gly230Ala
ENST00000643342.1:c.491G>C
ENST00000643439.1:c.*1158G>C	ENSP00000495849.1:n.*1158G>C
ENST00000643479.1:n.1604G>C
ENST00000643516.1:c.927G>C
ENST00000644218.1:c.1229G>C	ENSP00000493574.1:p.Gly410Ala
ENST00000644683.1:c.*871G>C	ENSP00000494085.1:n.*871G>C
ENST00000644810.1:c.1139G>C	ENSP00000495895.1:p.Gly380Ala
ENST00000644831.1:n.1594G>C
ENST00000644933.1:c.*284G>C	ENSP00000496133.1:n.*284G>C
ENST00000645285.1:c.*284G>C	ENSP00000495058.1:n.*284G>C
ENST00000645331.1:n.2623G>C
ENST00000645620.1:c.689G>C	ENSP00000493657.1:p.Gly230Ala
ENST00000646691.1:n.1305G>C
ENST00000646777.1:n.1751G>C
ENST00000647016.1:n.1898G>C
ENST00000647152.1:c.689G>C	ENSP00000495893.1:p.Gly230Ala
ENST00000647209.1:c.*1287G>C	ENSP00000495558.1:n.*1287G>C
ENST00000647346.1:n.2438G>C
ENST00000299427.10:c.1418G>C	ENSP00000299427.6:p.Gly473Ala
ENST00000524611.1:n.296G>C
ENST00000533371.5:c.689G>C	ENSP00000437066.1:p.Gly230Ala
ENST00000611494.4:c.1418G>C	ENSP00000484546.1:p.Gly473Ala
NM_000391.3:c.1418G>C	NP_000382.3:p.Gly473Ala
NM_000391.4:c.1418G>C MANE Select	NP_000382.3:p.Gly473Ala