Canonical Allele Identifier: CA379474998

Gene: TPP1

Linked Data

• dbSNP Id: rs1855591350
• gnomAD v3: 11-6616721-C-G
• gnomAD v4: 11-6616721-C-G
• MyVariant Identifiers: chr11:g.6637952C>G (hg19) ; chr11:g.6616721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616721C>G , CM000673.2:g.6616721C>G	GRCh38
NC_000011.9:g.6637952C>G , CM000673.1:g.6637952C>G	GRCh37
NC_000011.8:g.6594528C>G	NCBI36
NG_008653.1:g.7741G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.712G>C	ENSP00000507321.1:p.Asp238His
ENST00000299427.12:c.826G>C MANE Select	ENSP00000299427.6:p.Asp276His
ENST00000436873.7:c.312+580G>C
ENST00000524788.2:n.1985G>C
ENST00000524903.2:n.2101G>C
ENST00000528807.2:n.482G>C
ENST00000530040.2:n.480-218G>C
ENST00000533371.6:c.97G>C	ENSP00000437066.1:p.Asp33His
ENST00000642892.1:c.97G>C	ENSP00000494165.1:p.Asp33His
ENST00000643439.1:c.*566G>C	ENSP00000495849.1:n.*566G>C
ENST00000643479.1:n.855G>C
ENST00000643516.1:c.396-218G>C
ENST00000644151.1:n.2265G>C
ENST00000644218.1:c.826G>C	ENSP00000493574.1:p.Asp276His
ENST00000644683.1:c.*279G>C	ENSP00000494085.1:n.*279G>C
ENST00000644810.1:c.547G>C	ENSP00000495895.1:p.Asp183His
ENST00000644831.1:n.1002G>C
ENST00000644933.1:c.97G>C	ENSP00000496133.1:p.Asp33His
ENST00000645020.1:n.2116G>C
ENST00000645285.1:c.97G>C	ENSP00000495058.1:p.Asp33His
ENST00000645331.1:n.1192G>C
ENST00000645620.1:c.97G>C	ENSP00000493657.1:p.Asp33His
ENST00000646777.1:n.1002G>C
ENST00000647016.1:n.1306G>C
ENST00000647152.1:c.97G>C	ENSP00000495893.1:p.Asp33His
ENST00000647209.1:c.*695G>C	ENSP00000495558.1:n.*695G>C
ENST00000647346.1:n.1846G>C
ENST00000299427.10:c.826G>C	ENSP00000299427.6:p.Asp276His
ENST00000436873.6:c.451-218G>C	ENSP00000398136.2:n.451-218G>C
ENST00000524788.1:n.526G>C
ENST00000528807.1:n.376G>C
ENST00000533371.5:c.97G>C	ENSP00000437066.1:p.Asp33His
ENST00000611494.4:c.826G>C	ENSP00000484546.1:p.Asp276His
NM_000391.3:c.826G>C	NP_000382.3:p.Asp276His
NM_000391.4:c.826G>C MANE Select	NP_000382.3:p.Asp276His