Canonical Allele Identifier: CA5858819

Gene: TPP1

Linked Data

• dbSNP Id: rs752967494
• ExAC: 11:6637761 A / G
• gnomAD v2: 11-6637761-A-G
• gnomAD v3: 11-6616530-A-G
• gnomAD v4: 11-6616530-A-G
• MyVariant Identifiers: chr11:g.6637761A>G (hg19) ; chr11:g.6616530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616530A>G , CM000673.2:g.6616530A>G	GRCh38
NC_000011.9:g.6637761A>G , CM000673.1:g.6637761A>G	GRCh37
NC_000011.8:g.6594337A>G	NCBI36
NG_008653.1:g.7932T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.773-27T>C	ENSP00000507321.1:n.773-27T>C
ENST00000299427.12:c.887-27T>C MANE Select	ENSP00000299427.6:n.887-27T>C
ENST00000436873.7:c.313-456T>C
ENST00000524903.2:n.2292T>C
ENST00000530040.2:n.480-27T>C
ENST00000533371.6:c.158-27T>C	ENSP00000437066.1:n.158-27T>C
ENST00000642892.1:c.158-27T>C	ENSP00000494165.1:n.158-27T>C
ENST00000643439.1:c.*627-27T>C	ENSP00000495849.1:n.*627-27T>C
ENST00000643479.1:n.1046T>C
ENST00000643516.1:c.396-27T>C
ENST00000644218.1:c.886+131T>C	ENSP00000493574.1:n.886+131T>C
ENST00000644683.1:c.*340-27T>C	ENSP00000494085.1:n.*340-27T>C
ENST00000644810.1:c.608-27T>C	ENSP00000495895.1:n.608-27T>C
ENST00000644831.1:n.1063-27T>C
ENST00000644933.1:c.158-27T>C	ENSP00000496133.1:n.158-27T>C
ENST00000645285.1:c.157+131T>C	ENSP00000495058.1:n.157+131T>C
ENST00000645331.1:n.1383T>C
ENST00000645620.1:c.158-27T>C	ENSP00000493657.1:n.158-27T>C
ENST00000646777.1:n.1193T>C
ENST00000647016.1:n.1367-27T>C
ENST00000647152.1:c.158-27T>C	ENSP00000495893.1:n.158-27T>C
ENST00000647209.1:c.*756-27T>C	ENSP00000495558.1:n.*756-27T>C
ENST00000647346.1:n.1907-27T>C
ENST00000299427.10:c.887-27T>C	ENSP00000299427.6:n.887-27T>C
ENST00000436873.6:c.451-27T>C	ENSP00000398136.2:n.451-27T>C
ENST00000528807.1:n.567T>C
ENST00000533371.5:c.158-27T>C	ENSP00000437066.1:n.158-27T>C
ENST00000611494.4:c.887-27T>C	ENSP00000484546.1:n.887-27T>C
NM_000391.3:c.887-27T>C	NP_000382.3:n.887-27T>C
NM_000391.4:c.887-27T>C MANE Select	NP_000382.3:n.887-27T>C