Canonical Allele Identifier: CA5858825

Gene: TPP1

Linked Data

• dbSNP Id: rs746684650
• ExAC: 11:6637860 C / G
• gnomAD v2: 11-6637860-C-G
• gnomAD v3: 11-6616629-C-G
• gnomAD v4: 11-6616629-C-G
• MyVariant Identifiers: chr11:g.6637860C>G (hg19) ; chr11:g.6616629C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616629C>G , CM000673.2:g.6616629C>G	GRCh38
NC_000011.9:g.6637860C>G , CM000673.1:g.6637860C>G	GRCh37
NC_000011.8:g.6594436C>G	NCBI36
NG_008653.1:g.7833G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.772+32G>C	ENSP00000507321.1:n.772+32G>C
ENST00000299427.12:c.886+32G>C MANE Select	ENSP00000299427.6:n.886+32G>C
ENST00000436873.7:c.313-555G>C
ENST00000524788.2:n.2077G>C
ENST00000524903.2:n.2193G>C
ENST00000528807.2:n.574G>C
ENST00000530040.2:n.480-126G>C
ENST00000533371.6:c.157+32G>C	ENSP00000437066.1:n.157+32G>C
ENST00000642892.1:c.157+32G>C	ENSP00000494165.1:n.157+32G>C
ENST00000643439.1:c.*626+32G>C	ENSP00000495849.1:n.*626+32G>C
ENST00000643479.1:n.947G>C
ENST00000643516.1:c.396-126G>C
ENST00000644218.1:c.886+32G>C	ENSP00000493574.1:n.886+32G>C
ENST00000644683.1:c.*339+32G>C	ENSP00000494085.1:n.*339+32G>C
ENST00000644810.1:c.607+32G>C	ENSP00000495895.1:n.607+32G>C
ENST00000644831.1:n.1062+32G>C
ENST00000644933.1:c.157+32G>C	ENSP00000496133.1:n.157+32G>C
ENST00000645020.1:n.2208G>C
ENST00000645285.1:c.157+32G>C	ENSP00000495058.1:n.157+32G>C
ENST00000645331.1:n.1284G>C
ENST00000645620.1:c.157+32G>C	ENSP00000493657.1:n.157+32G>C
ENST00000646777.1:n.1094G>C
ENST00000647016.1:n.1366+32G>C
ENST00000647152.1:c.157+32G>C	ENSP00000495893.1:n.157+32G>C
ENST00000647209.1:c.*755+32G>C	ENSP00000495558.1:n.*755+32G>C
ENST00000647346.1:n.1906+32G>C
ENST00000299427.10:c.886+32G>C	ENSP00000299427.6:n.886+32G>C
ENST00000436873.6:c.451-126G>C	ENSP00000398136.2:n.451-126G>C
ENST00000528807.1:n.468G>C
ENST00000533371.5:c.157+32G>C	ENSP00000437066.1:n.157+32G>C
ENST00000611494.4:c.886+32G>C	ENSP00000484546.1:n.886+32G>C
NM_000391.3:c.886+32G>C	NP_000382.3:n.886+32G>C
NM_000391.4:c.886+32G>C MANE Select	NP_000382.3:n.886+32G>C