Canonical Allele Identifier: CA5858930

Gene: TPP1

Linked Data

• dbSNP Id: rs779368037
• ExAC: 11:6638496 G / C
• gnomAD v2: 11-6638496-G-C
• gnomAD v3: 11-6617265-G-C
• gnomAD v4: 11-6617265-G-C
• MyVariant Identifiers: chr11:g.6638496G>C (hg19) ; chr11:g.6617265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617265G>C , CM000673.2:g.6617265G>C	GRCh38
NC_000011.9:g.6638496G>C , CM000673.1:g.6638496G>C	GRCh37
NC_000011.8:g.6595072G>C	NCBI36
NG_008653.1:g.7197C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394+36C>G	ENSP00000507321.1:n.394+36C>G
ENST00000299427.12:c.508+36C>G MANE Select	ENSP00000299427.6:n.508+36C>G
ENST00000428886.7:n.632C>G
ENST00000436873.7:c.312+36C>G
ENST00000524788.2:n.1556C>G
ENST00000524903.2:n.1672C>G
ENST00000528571.6:c.*284C>G	ENSP00000434647.1:n.*284C>G
ENST00000528807.2:n.164+36C>G
ENST00000530040.2:n.479+94C>G
ENST00000533371.6:c.-222+36C>G	ENSP00000437066.1:n.-222+36C>G
ENST00000534644.6:n.456+89C>G
ENST00000642892.1:c.-222+89C>G	ENSP00000494165.1:n.-222+89C>G
ENST00000643439.1:c.*248+36C>G	ENSP00000495849.1:n.*248+36C>G
ENST00000643479.1:n.537+36C>G
ENST00000643516.1:c.395+36C>G
ENST00000644151.1:n.1836C>G
ENST00000644218.1:c.508+36C>G	ENSP00000493574.1:n.508+36C>G
ENST00000644683.1:c.450+94C>G	ENSP00000494085.1:n.450+94C>G
ENST00000644810.1:c.230-112C>G	ENSP00000495895.1:n.230-112C>G
ENST00000644831.1:n.573C>G
ENST00000644933.1:c.-222+36C>G	ENSP00000496133.1:n.-222+36C>G
ENST00000645020.1:n.1572C>G
ENST00000645285.1:c.-222+36C>G	ENSP00000495058.1:n.-222+36C>G
ENST00000645331.1:n.763C>G
ENST00000645620.1:c.-222+94C>G	ENSP00000493657.1:n.-222+94C>G
ENST00000646777.1:n.573C>G
ENST00000647016.1:n.877C>G
ENST00000647152.1:c.-222+36C>G	ENSP00000495893.1:n.-222+36C>G
ENST00000647209.1:c.*377+36C>G	ENSP00000495558.1:n.*377+36C>G
ENST00000647346.1:n.1528+36C>G
ENST00000299427.10:c.508+36C>G	ENSP00000299427.6:n.508+36C>G
ENST00000428886.6:n.566C>G
ENST00000436873.6:c.450+94C>G	ENSP00000398136.2:n.450+94C>G
ENST00000524788.1:n.97C>G
ENST00000528571.5:c.*248+36C>G	ENSP00000434647.1:n.*248+36C>G
ENST00000533371.5:c.-222+36C>G	ENSP00000437066.1:n.-222+36C>G
ENST00000534644.5:n.493+36C>G
ENST00000611494.4:c.508+36C>G	ENSP00000484546.1:n.508+36C>G
NM_000391.3:c.508+36C>G	NP_000382.3:n.508+36C>G
NM_000391.4:c.508+36C>G MANE Select	NP_000382.3:n.508+36C>G