Canonical Allele Identifier: CA5859007

Gene: TPP1

Linked Data

• dbSNP Id: rs773275639
• ExAC: 11:6638980 G / C
• gnomAD v2: 11-6638980-G-C
• gnomAD v4: 11-6617749-G-C
• MyVariant Identifiers: chr11:g.6638980G>C (hg19) ; chr11:g.6617749G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617749G>C , CM000673.2:g.6617749G>C	GRCh38
NC_000011.9:g.6638980G>C , CM000673.1:g.6638980G>C	GRCh37
NC_000011.8:g.6595556G>C	NCBI36
NG_008653.1:g.6713C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.143C>G	ENSP00000507321.1:p.Ala48Gly
ENST00000299427.12:c.257C>G MANE Select	ENSP00000299427.6:p.Ala86Gly
ENST00000428886.7:n.345C>G
ENST00000436873.7:c.61C>G
ENST00000524788.2:n.1269C>G
ENST00000524903.2:n.1385C>G
ENST00000528571.6:c.117C>G	ENSP00000434647.1:p.Gly39=
ENST00000530040.2:n.286C>G
ENST00000533371.6:c.-473C>G	ENSP00000437066.1:n.-473C>G
ENST00000534644.6:n.258C>G
ENST00000642892.1:c.-420C>G	ENSP00000494165.1:n.-420C>G
ENST00000643439.1:c.117C>G	ENSP00000495849.1:p.Gly39=
ENST00000643479.1:n.286C>G
ENST00000643516.1:c.144C>G
ENST00000644151.1:n.1549C>G
ENST00000644218.1:c.257C>G	ENSP00000493574.1:p.Ala86Gly
ENST00000644683.1:c.257C>G	ENSP00000494085.1:p.Ala86Gly
ENST00000644810.1:c.230-596C>G	ENSP00000495895.1:n.230-596C>G
ENST00000644831.1:n.286C>G
ENST00000644933.1:c.-473C>G	ENSP00000496133.1:n.-473C>G
ENST00000645020.1:n.1285C>G
ENST00000645285.1:c.-473C>G	ENSP00000495058.1:n.-473C>G
ENST00000645331.1:n.279C>G
ENST00000645620.1:c.-415C>G	ENSP00000493657.1:n.-415C>G
ENST00000646777.1:n.286C>G
ENST00000647016.1:n.590C>G
ENST00000647152.1:c.-473C>G	ENSP00000495893.1:n.-473C>G
ENST00000647209.1:c.*126C>G	ENSP00000495558.1:n.*126C>G
ENST00000647346.1:n.1277C>G
ENST00000299427.10:c.257C>G	ENSP00000299427.6:p.Ala86Gly
ENST00000428886.6:n.279C>G
ENST00000436873.6:c.257C>G	ENSP00000398136.2:p.Ala86Gly
ENST00000528571.5:c.117C>G	ENSP00000434647.1:p.Gly39=
ENST00000528917.1:n.558C>G
ENST00000530040.1:n.369C>G
ENST00000533371.5:c.-473C>G	ENSP00000437066.1:n.-473C>G
ENST00000534644.5:n.242C>G
ENST00000611494.4:c.257C>G	ENSP00000484546.1:p.Ala86Gly
NM_000391.3:c.257C>G	NP_000382.3:p.Ala86Gly
NM_000391.4:c.257C>G MANE Select	NP_000382.3:p.Ala86Gly