Canonical Allele Identifier: CA379472094

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614626-A-G
• MyVariant Identifiers: chr11:g.6635857A>G (hg19) ; chr11:g.6614626A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614626A>G , CM000673.2:g.6614626A>G	GRCh38
NC_000011.9:g.6635857A>G , CM000673.1:g.6635857A>G	GRCh37
NC_000011.8:g.6592433A>G	NCBI36
NG_008653.1:g.9836T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1498T>C	ENSP00000507321.1:p.Ser500Pro
ENST00000299427.12:c.1612T>C MANE Select	ENSP00000299427.6:p.Ser538Pro
ENST00000524611.2:n.651T>C
ENST00000524924.2:n.732T>C
ENST00000533371.6:c.883T>C	ENSP00000437066.1:p.Ser295Pro
ENST00000642892.1:c.883T>C	ENSP00000494165.1:p.Ser295Pro
ENST00000643342.1:c.685T>C
ENST00000643439.1:c.*1352T>C	ENSP00000495849.1:n.*1352T>C
ENST00000643479.1:n.1798T>C
ENST00000643516.1:c.1121T>C
ENST00000644218.1:c.1423T>C	ENSP00000493574.1:p.Ser475Pro
ENST00000644683.1:c.*1065T>C	ENSP00000494085.1:n.*1065T>C
ENST00000644810.1:c.1333T>C	ENSP00000495895.1:p.Ser445Pro
ENST00000644831.1:n.1788T>C
ENST00000644933.1:c.*478T>C	ENSP00000496133.1:n.*478T>C
ENST00000645285.1:c.*478T>C	ENSP00000495058.1:n.*478T>C
ENST00000645331.1:n.2817T>C
ENST00000645620.1:c.883T>C	ENSP00000493657.1:p.Ser295Pro
ENST00000646691.1:n.1499T>C
ENST00000646777.1:n.1945T>C
ENST00000647016.1:n.2092T>C
ENST00000647152.1:c.883T>C	ENSP00000495893.1:p.Ser295Pro
ENST00000647209.1:c.*1481T>C	ENSP00000495558.1:n.*1481T>C
ENST00000647346.1:n.2632T>C
ENST00000299427.10:c.1612T>C	ENSP00000299427.6:p.Ser538Pro
ENST00000533371.5:c.883T>C	ENSP00000437066.1:p.Ser295Pro
ENST00000611494.4:c.1612T>C	ENSP00000484546.1:p.Ser538Pro
NM_000391.3:c.1612T>C	NP_000382.3:p.Ser538Pro
NM_000391.4:c.1612T>C MANE Select	NP_000382.3:p.Ser538Pro