Canonical Allele Identifier: CA379474964

Gene: TPP1

Linked Data

• dbSNP Id: rs1274077147
• gnomAD v2: 11-6637936-A-G
• gnomAD v4: 11-6616705-A-G
• MyVariant Identifiers: chr11:g.6637936A>G (hg19) ; chr11:g.6616705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616705A>G , CM000673.2:g.6616705A>G	GRCh38
NC_000011.9:g.6637936A>G , CM000673.1:g.6637936A>G	GRCh37
NC_000011.8:g.6594512A>G	NCBI36
NG_008653.1:g.7757T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.728T>C	ENSP00000507321.1:p.Met243Thr
ENST00000299427.12:c.842T>C MANE Select	ENSP00000299427.6:p.Met281Thr
ENST00000436873.7:c.312+596T>C
ENST00000524788.2:n.2001T>C
ENST00000524903.2:n.2117T>C
ENST00000528807.2:n.498T>C
ENST00000530040.2:n.480-202T>C
ENST00000533371.6:c.113T>C	ENSP00000437066.1:p.Met38Thr
ENST00000642892.1:c.113T>C	ENSP00000494165.1:p.Met38Thr
ENST00000643439.1:c.*582T>C	ENSP00000495849.1:n.*582T>C
ENST00000643479.1:n.871T>C
ENST00000643516.1:c.396-202T>C
ENST00000644151.1:n.2281T>C
ENST00000644218.1:c.842T>C	ENSP00000493574.1:p.Met281Thr
ENST00000644683.1:c.*295T>C	ENSP00000494085.1:n.*295T>C
ENST00000644810.1:c.563T>C	ENSP00000495895.1:p.Met188Thr
ENST00000644831.1:n.1018T>C
ENST00000644933.1:c.113T>C	ENSP00000496133.1:p.Met38Thr
ENST00000645020.1:n.2132T>C
ENST00000645285.1:c.113T>C	ENSP00000495058.1:p.Met38Thr
ENST00000645331.1:n.1208T>C
ENST00000645620.1:c.113T>C	ENSP00000493657.1:p.Met38Thr
ENST00000646777.1:n.1018T>C
ENST00000647016.1:n.1322T>C
ENST00000647152.1:c.113T>C	ENSP00000495893.1:p.Met38Thr
ENST00000647209.1:c.*711T>C	ENSP00000495558.1:n.*711T>C
ENST00000647346.1:n.1862T>C
ENST00000299427.10:c.842T>C	ENSP00000299427.6:p.Met281Thr
ENST00000436873.6:c.451-202T>C	ENSP00000398136.2:n.451-202T>C
ENST00000524788.1:n.542T>C
ENST00000528807.1:n.392T>C
ENST00000533371.5:c.113T>C	ENSP00000437066.1:p.Met38Thr
ENST00000611494.4:c.842T>C	ENSP00000484546.1:p.Met281Thr
NM_000391.3:c.842T>C	NP_000382.3:p.Met281Thr
NM_000391.4:c.842T>C MANE Select	NP_000382.3:p.Met281Thr