Canonical Allele Identifier: CA597439637

Gene: TPP1

Linked Data

• dbSNP Id: rs1265900511
• gnomAD v2: 11-6637884-G-C
• gnomAD v4: 11-6616653-G-C
• MyVariant Identifiers: chr11:g.6637884G>C (hg19) ; chr11:g.6616653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616653G>C , CM000673.2:g.6616653G>C	GRCh38
NC_000011.9:g.6637884G>C , CM000673.1:g.6637884G>C	GRCh37
NC_000011.8:g.6594460G>C	NCBI36
NG_008653.1:g.7809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.772+8C>G	ENSP00000507321.1:n.772+8C>G
ENST00000299427.12:c.886+8C>G MANE Select	ENSP00000299427.6:n.886+8C>G
ENST00000436873.7:c.313-579C>G
ENST00000524788.2:n.2053C>G
ENST00000524903.2:n.2169C>G
ENST00000528807.2:n.550C>G
ENST00000530040.2:n.480-150C>G
ENST00000533371.6:c.157+8C>G	ENSP00000437066.1:n.157+8C>G
ENST00000642892.1:c.157+8C>G	ENSP00000494165.1:n.157+8C>G
ENST00000643439.1:c.*626+8C>G	ENSP00000495849.1:n.*626+8C>G
ENST00000643479.1:n.923C>G
ENST00000643516.1:c.396-150C>G
ENST00000644151.1:n.2333C>G
ENST00000644218.1:c.886+8C>G	ENSP00000493574.1:n.886+8C>G
ENST00000644683.1:c.*339+8C>G	ENSP00000494085.1:n.*339+8C>G
ENST00000644810.1:c.607+8C>G	ENSP00000495895.1:n.607+8C>G
ENST00000644831.1:n.1062+8C>G
ENST00000644933.1:c.157+8C>G	ENSP00000496133.1:n.157+8C>G
ENST00000645020.1:n.2184C>G
ENST00000645285.1:c.157+8C>G	ENSP00000495058.1:n.157+8C>G
ENST00000645331.1:n.1260C>G
ENST00000645620.1:c.157+8C>G	ENSP00000493657.1:n.157+8C>G
ENST00000646777.1:n.1070C>G
ENST00000647016.1:n.1366+8C>G
ENST00000647152.1:c.157+8C>G	ENSP00000495893.1:n.157+8C>G
ENST00000647209.1:c.*755+8C>G	ENSP00000495558.1:n.*755+8C>G
ENST00000647346.1:n.1906+8C>G
ENST00000299427.10:c.886+8C>G	ENSP00000299427.6:n.886+8C>G
ENST00000436873.6:c.451-150C>G	ENSP00000398136.2:n.451-150C>G
ENST00000528807.1:n.444C>G
ENST00000533371.5:c.157+8C>G	ENSP00000437066.1:n.157+8C>G
ENST00000611494.4:c.886+8C>G	ENSP00000484546.1:n.886+8C>G
NM_000391.3:c.886+8C>G	NP_000382.3:n.886+8C>G
NM_000391.4:c.886+8C>G MANE Select	NP_000382.3:n.886+8C>G