Canonical Allele Identifier: CA472771751

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1537179
• ClinVar RCV Id: RCV002166888
• dbSNP Id: rs2134592068
• gnomAD v4: 11-6615493-G-A
• MyVariant Identifiers: chr11:g.6636724G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615493G>A , CM000673.2:g.6615493G>A	GRCh38
NC_000011.9:g.6636724G>A , CM000673.1:g.6636724G>A	GRCh37
NC_000011.8:g.6593300G>A	NCBI36
NG_008653.1:g.8969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1101C>T	ENSP00000507321.1:p.Asp367=
ENST00000299427.12:c.1215C>T MANE Select	ENSP00000299427.6:p.Asp405=
ENST00000436873.7:c.452C>T
ENST00000524924.2:n.335C>T
ENST00000533371.6:c.486C>T	ENSP00000437066.1:p.Asp162=
ENST00000642892.1:c.486C>T	ENSP00000494165.1:p.Asp162=
ENST00000643342.1:c.288C>T
ENST00000643439.1:c.*955C>T	ENSP00000495849.1:n.*955C>T
ENST00000643479.1:n.1401C>T
ENST00000643516.1:c.724C>T
ENST00000644218.1:c.1026C>T	ENSP00000493574.1:p.Asp342=
ENST00000644683.1:c.*668C>T	ENSP00000494085.1:n.*668C>T
ENST00000644810.1:c.936C>T	ENSP00000495895.1:p.Asp312=
ENST00000644831.1:n.1391C>T
ENST00000644933.1:c.*81C>T	ENSP00000496133.1:n.*81C>T
ENST00000645285.1:c.*81C>T	ENSP00000495058.1:n.*81C>T
ENST00000645331.1:n.2420C>T
ENST00000645620.1:c.486C>T	ENSP00000493657.1:p.Asp162=
ENST00000646691.1:n.990C>T
ENST00000646777.1:n.1548C>T
ENST00000647016.1:n.1695C>T
ENST00000647152.1:c.486C>T	ENSP00000495893.1:p.Asp162=
ENST00000647209.1:c.*1084C>T	ENSP00000495558.1:n.*1084C>T
ENST00000647346.1:n.2235C>T
ENST00000299427.10:c.1215C>T	ENSP00000299427.6:p.Asp405=
ENST00000524924.1:n.170C>T
ENST00000532191.1:n.268C>T
ENST00000533371.5:c.486C>T	ENSP00000437066.1:p.Asp162=
ENST00000611494.4:c.1215C>T	ENSP00000484546.1:p.Asp405=
NM_000391.3:c.1215C>T	NP_000382.3:p.Asp405=
NM_000391.4:c.1215C>T MANE Select	NP_000382.3:p.Asp405=