Canonical Allele Identifier: CA217322856

Gene: TPP1

Linked Data

• dbSNP Id: rs1035631951
• gnomAD v3: 11-6616618-A-G
• gnomAD v4: 11-6616618-A-G
• MyVariant Identifiers: chr11:g.6637849A>G (hg19) ; chr11:g.6616618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616618A>G , CM000673.2:g.6616618A>G	GRCh38
NC_000011.9:g.6637849A>G , CM000673.1:g.6637849A>G	GRCh37
NC_000011.8:g.6594425A>G	NCBI36
NG_008653.1:g.7844T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.772+43T>C	ENSP00000507321.1:n.772+43T>C
ENST00000299427.12:c.886+43T>C MANE Select	ENSP00000299427.6:n.886+43T>C
ENST00000436873.7:c.313-544T>C
ENST00000524788.2:n.2088T>C
ENST00000524903.2:n.2204T>C
ENST00000528807.2:n.585T>C
ENST00000530040.2:n.480-115T>C
ENST00000533371.6:c.157+43T>C	ENSP00000437066.1:n.157+43T>C
ENST00000642892.1:c.157+43T>C	ENSP00000494165.1:n.157+43T>C
ENST00000643439.1:c.*626+43T>C	ENSP00000495849.1:n.*626+43T>C
ENST00000643479.1:n.958T>C
ENST00000643516.1:c.396-115T>C
ENST00000644218.1:c.886+43T>C	ENSP00000493574.1:n.886+43T>C
ENST00000644683.1:c.*339+43T>C	ENSP00000494085.1:n.*339+43T>C
ENST00000644810.1:c.607+43T>C	ENSP00000495895.1:n.607+43T>C
ENST00000644831.1:n.1062+43T>C
ENST00000644933.1:c.157+43T>C	ENSP00000496133.1:n.157+43T>C
ENST00000645020.1:n.2219T>C
ENST00000645285.1:c.157+43T>C	ENSP00000495058.1:n.157+43T>C
ENST00000645331.1:n.1295T>C
ENST00000645620.1:c.157+43T>C	ENSP00000493657.1:n.157+43T>C
ENST00000646777.1:n.1105T>C
ENST00000647016.1:n.1366+43T>C
ENST00000647152.1:c.157+43T>C	ENSP00000495893.1:n.157+43T>C
ENST00000647209.1:c.*755+43T>C	ENSP00000495558.1:n.*755+43T>C
ENST00000647346.1:n.1906+43T>C
ENST00000299427.10:c.886+43T>C	ENSP00000299427.6:n.886+43T>C
ENST00000436873.6:c.451-115T>C	ENSP00000398136.2:n.451-115T>C
ENST00000528807.1:n.479T>C
ENST00000533371.5:c.157+43T>C	ENSP00000437066.1:n.157+43T>C
ENST00000611494.4:c.886+43T>C	ENSP00000484546.1:n.886+43T>C
NM_000391.3:c.886+43T>C	NP_000382.3:n.886+43T>C
NM_000391.4:c.886+43T>C MANE Select	NP_000382.3:n.886+43T>C