Canonical Allele Identifier: CA597439634

Gene: TPP1

Linked Data

• dbSNP Id: rs1239918834
• gnomAD v2: 11-6637863-T-G
• gnomAD v4: 11-6616632-T-G
• MyVariant Identifiers: chr11:g.6637863T>G (hg19) ; chr11:g.6616632T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616632T>G , CM000673.2:g.6616632T>G	GRCh38
NC_000011.9:g.6637863T>G , CM000673.1:g.6637863T>G	GRCh37
NC_000011.8:g.6594439T>G	NCBI36
NG_008653.1:g.7830A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.772+29A>C	ENSP00000507321.1:n.772+29A>C
ENST00000299427.12:c.886+29A>C MANE Select	ENSP00000299427.6:n.886+29A>C
ENST00000436873.7:c.313-558A>C
ENST00000524788.2:n.2074A>C
ENST00000524903.2:n.2190A>C
ENST00000528807.2:n.571A>C
ENST00000530040.2:n.480-129A>C
ENST00000533371.6:c.157+29A>C	ENSP00000437066.1:n.157+29A>C
ENST00000642892.1:c.157+29A>C	ENSP00000494165.1:n.157+29A>C
ENST00000643439.1:c.*626+29A>C	ENSP00000495849.1:n.*626+29A>C
ENST00000643479.1:n.944A>C
ENST00000643516.1:c.396-129A>C
ENST00000644218.1:c.886+29A>C	ENSP00000493574.1:n.886+29A>C
ENST00000644683.1:c.*339+29A>C	ENSP00000494085.1:n.*339+29A>C
ENST00000644810.1:c.607+29A>C	ENSP00000495895.1:n.607+29A>C
ENST00000644831.1:n.1062+29A>C
ENST00000644933.1:c.157+29A>C	ENSP00000496133.1:n.157+29A>C
ENST00000645020.1:n.2205A>C
ENST00000645285.1:c.157+29A>C	ENSP00000495058.1:n.157+29A>C
ENST00000645331.1:n.1281A>C
ENST00000645620.1:c.157+29A>C	ENSP00000493657.1:n.157+29A>C
ENST00000646777.1:n.1091A>C
ENST00000647016.1:n.1366+29A>C
ENST00000647152.1:c.157+29A>C	ENSP00000495893.1:n.157+29A>C
ENST00000647209.1:c.*755+29A>C	ENSP00000495558.1:n.*755+29A>C
ENST00000647346.1:n.1906+29A>C
ENST00000299427.10:c.886+29A>C	ENSP00000299427.6:n.886+29A>C
ENST00000436873.6:c.451-129A>C	ENSP00000398136.2:n.451-129A>C
ENST00000528807.1:n.465A>C
ENST00000533371.5:c.157+29A>C	ENSP00000437066.1:n.157+29A>C
ENST00000611494.4:c.886+29A>C	ENSP00000484546.1:n.886+29A>C
NM_000391.3:c.886+29A>C	NP_000382.3:n.886+29A>C
NM_000391.4:c.886+29A>C MANE Select	NP_000382.3:n.886+29A>C