Canonical Allele Identifier: CA379474456

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616445-T-C
• MyVariant Identifiers: chr11:g.6637676T>C (hg19) ; chr11:g.6616445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616445T>C , CM000673.2:g.6616445T>C	GRCh38
NC_000011.9:g.6637676T>C , CM000673.1:g.6637676T>C	GRCh37
NC_000011.8:g.6594252T>C	NCBI36
NG_008653.1:g.8017A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.831A>G	ENSP00000507321.1:p.Ser277=
ENST00000299427.12:c.945A>G MANE Select	ENSP00000299427.6:p.Ser315=
ENST00000436873.7:c.313-371A>G
ENST00000530040.2:n.538A>G
ENST00000533371.6:c.216A>G	ENSP00000437066.1:p.Ser72=
ENST00000642892.1:c.216A>G	ENSP00000494165.1:p.Ser72=
ENST00000643342.1:c.35A>G
ENST00000643439.1:c.*685A>G	ENSP00000495849.1:n.*685A>G
ENST00000643479.1:n.1131A>G
ENST00000643516.1:c.454A>G
ENST00000644218.1:c.886+216A>G	ENSP00000493574.1:n.886+216A>G
ENST00000644683.1:c.*398A>G	ENSP00000494085.1:n.*398A>G
ENST00000644810.1:c.666A>G	ENSP00000495895.1:p.Ser222=
ENST00000644831.1:n.1121A>G
ENST00000644933.1:c.216A>G	ENSP00000496133.1:p.Ser72=
ENST00000645285.1:c.157+216A>G	ENSP00000495058.1:n.157+216A>G
ENST00000645331.1:n.1468A>G
ENST00000645620.1:c.216A>G	ENSP00000493657.1:p.Ser72=
ENST00000646691.1:n.38A>G
ENST00000646777.1:n.1278A>G
ENST00000647016.1:n.1425A>G
ENST00000647152.1:c.216A>G	ENSP00000495893.1:p.Ser72=
ENST00000647209.1:c.*814A>G	ENSP00000495558.1:n.*814A>G
ENST00000647346.1:n.1965A>G
ENST00000299427.10:c.945A>G	ENSP00000299427.6:p.Ser315=
ENST00000436873.6:c.509A>G	ENSP00000398136.2:p.Gln170Arg
ENST00000533371.5:c.216A>G	ENSP00000437066.1:p.Ser72=
ENST00000611494.4:c.945A>G	ENSP00000484546.1:p.Ser315=
NM_000391.3:c.945A>G	NP_000382.3:p.Ser315=
NM_000391.4:c.945A>G MANE Select	NP_000382.3:p.Ser315=