Canonical Allele Identifier: CA217323635

Gene: TPP1

Linked Data

• dbSNP Id: rs964746255
• gnomAD v4: 11-6617183-C-G
• MyVariant Identifiers: chr11:g.6638414C>G (hg19) ; chr11:g.6617183C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617183C>G , CM000673.2:g.6617183C>G	GRCh38
NC_000011.9:g.6638414C>G , CM000673.1:g.6638414C>G	GRCh37
NC_000011.8:g.6594990C>G	NCBI36
NG_008653.1:g.7279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.395-30G>C	ENSP00000507321.1:n.395-30G>C
ENST00000299427.12:c.509-30G>C MANE Select	ENSP00000299427.6:n.509-30G>C
ENST00000428886.7:n.714G>C
ENST00000436873.7:c.312+118G>C
ENST00000524788.2:n.1638G>C
ENST00000524903.2:n.1754G>C
ENST00000528807.2:n.165-30G>C
ENST00000530040.2:n.479+176G>C
ENST00000533371.6:c.-221-30G>C	ENSP00000437066.1:n.-221-30G>C
ENST00000534644.6:n.457-30G>C
ENST00000642892.1:c.-221-30G>C	ENSP00000494165.1:n.-221-30G>C
ENST00000643439.1:c.*249-30G>C	ENSP00000495849.1:n.*249-30G>C
ENST00000643479.1:n.538-30G>C
ENST00000643516.1:c.395+118G>C
ENST00000644151.1:n.1918G>C
ENST00000644218.1:c.509-30G>C	ENSP00000493574.1:n.509-30G>C
ENST00000644683.1:c.451-30G>C	ENSP00000494085.1:n.451-30G>C
ENST00000644810.1:c.230-30G>C	ENSP00000495895.1:n.230-30G>C
ENST00000644831.1:n.655G>C
ENST00000644933.1:c.-221-30G>C	ENSP00000496133.1:n.-221-30G>C
ENST00000645020.1:n.1654G>C
ENST00000645285.1:c.-221-30G>C	ENSP00000495058.1:n.-221-30G>C
ENST00000645331.1:n.845G>C
ENST00000645620.1:c.-221-30G>C	ENSP00000493657.1:n.-221-30G>C
ENST00000646777.1:n.655G>C
ENST00000647016.1:n.959G>C
ENST00000647152.1:c.-221-30G>C	ENSP00000495893.1:n.-221-30G>C
ENST00000647209.1:c.*378-30G>C	ENSP00000495558.1:n.*378-30G>C
ENST00000647346.1:n.1529-30G>C
ENST00000299427.10:c.509-30G>C	ENSP00000299427.6:n.509-30G>C
ENST00000428886.6:n.648G>C
ENST00000436873.6:c.450+176G>C	ENSP00000398136.2:n.450+176G>C
ENST00000524788.1:n.179G>C
ENST00000528571.5:c.*249-30G>C	ENSP00000434647.1:n.*249-30G>C
ENST00000528807.1:n.29G>C
ENST00000533371.5:c.-221-30G>C	ENSP00000437066.1:n.-221-30G>C
ENST00000534644.5:n.494-30G>C
ENST00000611494.4:c.509-30G>C	ENSP00000484546.1:n.509-30G>C
NM_000391.3:c.509-30G>C	NP_000382.3:n.509-30G>C
NM_000391.4:c.509-30G>C MANE Select	NP_000382.3:n.509-30G>C