Canonical Allele Identifier: CA379473736

Gene: TPP1

Linked Data

• dbSNP Id: rs1166088653
• gnomAD v2: 11-6637263-T-G
• MyVariant Identifiers: chr11:g.6637263T>G (hg19) ; chr11:g.6616032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616032T>G , CM000673.2:g.6616032T>G	GRCh38
NC_000011.9:g.6637263T>G , CM000673.1:g.6637263T>G	GRCh37
NC_000011.8:g.6593839T>G	NCBI36
NG_008653.1:g.8430A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1004A>C	ENSP00000507321.1:p.Gln335Pro
ENST00000299427.12:c.1118A>C MANE Select	ENSP00000299427.6:p.Gln373Pro
ENST00000436873.7:c.355A>C
ENST00000524924.2:n.238A>C
ENST00000533371.6:c.389A>C	ENSP00000437066.1:p.Gln130Pro
ENST00000642892.1:c.389A>C	ENSP00000494165.1:p.Gln130Pro
ENST00000643342.1:c.208A>C
ENST00000643439.1:c.*858A>C	ENSP00000495849.1:n.*858A>C
ENST00000643479.1:n.1304A>C
ENST00000643516.1:c.627A>C
ENST00000644218.1:c.929A>C	ENSP00000493574.1:p.Gln310Pro
ENST00000644683.1:c.*571A>C	ENSP00000494085.1:n.*571A>C
ENST00000644810.1:c.839A>C	ENSP00000495895.1:p.Gln280Pro
ENST00000644831.1:n.1294A>C
ENST00000644933.1:c.389A>C	ENSP00000496133.1:p.Gln130Pro
ENST00000645285.1:c.200A>C	ENSP00000495058.1:p.Gln67Pro
ENST00000645331.1:n.1881A>C
ENST00000645620.1:c.389A>C	ENSP00000493657.1:p.Gln130Pro
ENST00000646691.1:n.451A>C
ENST00000646777.1:n.1451A>C
ENST00000647016.1:n.1598A>C
ENST00000647152.1:c.389A>C	ENSP00000495893.1:p.Gln130Pro
ENST00000647209.1:c.*987A>C	ENSP00000495558.1:n.*987A>C
ENST00000647346.1:n.2138A>C
ENST00000299427.10:c.1118A>C	ENSP00000299427.6:p.Gln373Pro
ENST00000524924.1:n.73A>C
ENST00000533371.5:c.389A>C	ENSP00000437066.1:p.Gln130Pro
ENST00000611494.4:c.1118A>C	ENSP00000484546.1:p.Gln373Pro
NM_000391.3:c.1118A>C	NP_000382.3:p.Gln373Pro
NM_000391.4:c.1118A>C MANE Select	NP_000382.3:p.Gln373Pro