Canonical Allele Identifier: CA379472530

Gene: TPP1

Linked Data

• dbSNP Id: rs1486949930
• gnomAD v2: 11-6636415-A-G
• gnomAD v4: 11-6615184-A-G
• MyVariant Identifiers: chr11:g.6636415A>G (hg19) ; chr11:g.6615184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615184A>G , CM000673.2:g.6615184A>G	GRCh38
NC_000011.9:g.6636415A>G , CM000673.1:g.6636415A>G	GRCh37
NC_000011.8:g.6592991A>G	NCBI36
NG_008653.1:g.9278T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1298T>C	ENSP00000507321.1:p.Val433Ala
ENST00000299427.12:c.1412T>C MANE Select	ENSP00000299427.6:p.Val471Ala
ENST00000524611.2:n.272T>C
ENST00000524924.2:n.532T>C
ENST00000533371.6:c.683T>C	ENSP00000437066.1:p.Val228Ala
ENST00000642892.1:c.683T>C	ENSP00000494165.1:p.Val228Ala
ENST00000643342.1:c.485T>C
ENST00000643439.1:c.*1152T>C	ENSP00000495849.1:n.*1152T>C
ENST00000643479.1:n.1598T>C
ENST00000643516.1:c.921T>C
ENST00000644218.1:c.1223T>C	ENSP00000493574.1:p.Val408Ala
ENST00000644683.1:c.*865T>C	ENSP00000494085.1:n.*865T>C
ENST00000644810.1:c.1133T>C	ENSP00000495895.1:p.Val378Ala
ENST00000644831.1:n.1588T>C
ENST00000644933.1:c.*278T>C	ENSP00000496133.1:n.*278T>C
ENST00000645285.1:c.*278T>C	ENSP00000495058.1:n.*278T>C
ENST00000645331.1:n.2617T>C
ENST00000645620.1:c.683T>C	ENSP00000493657.1:p.Val228Ala
ENST00000646691.1:n.1299T>C
ENST00000646777.1:n.1745T>C
ENST00000647016.1:n.1892T>C
ENST00000647152.1:c.683T>C	ENSP00000495893.1:p.Val228Ala
ENST00000647209.1:c.*1281T>C	ENSP00000495558.1:n.*1281T>C
ENST00000647346.1:n.2432T>C
ENST00000299427.10:c.1412T>C	ENSP00000299427.6:p.Val471Ala
ENST00000524611.1:n.290T>C
ENST00000533371.5:c.683T>C	ENSP00000437066.1:p.Val228Ala
ENST00000611494.4:c.1412T>C	ENSP00000484546.1:p.Val471Ala
NM_000391.3:c.1412T>C	NP_000382.3:p.Val471Ala
NM_000391.4:c.1412T>C MANE Select	NP_000382.3:p.Val471Ala