Canonical Allele Identifier: CA5858828

Gene: TPP1

Linked Data

• dbSNP Id: rs769824907
• ExAC: 11:6637940 G / C
• gnomAD v2: 11-6637940-G-C
• gnomAD v3: 11-6616709-G-C
• gnomAD v4: 11-6616709-G-C
• MyVariant Identifiers: chr11:g.6637940G>C (hg19) ; chr11:g.6616709G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616709G>C , CM000673.2:g.6616709G>C	GRCh38
NC_000011.9:g.6637940G>C , CM000673.1:g.6637940G>C	GRCh37
NC_000011.8:g.6594516G>C	NCBI36
NG_008653.1:g.7753C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.724C>G	ENSP00000507321.1:p.Leu242Val
ENST00000299427.12:c.838C>G MANE Select	ENSP00000299427.6:p.Leu280Val
ENST00000436873.7:c.312+592C>G
ENST00000524788.2:n.1997C>G
ENST00000524903.2:n.2113C>G
ENST00000528807.2:n.494C>G
ENST00000530040.2:n.480-206C>G
ENST00000533371.6:c.109C>G	ENSP00000437066.1:p.Leu37Val
ENST00000642892.1:c.109C>G	ENSP00000494165.1:p.Leu37Val
ENST00000643439.1:c.*578C>G	ENSP00000495849.1:n.*578C>G
ENST00000643479.1:n.867C>G
ENST00000643516.1:c.396-206C>G
ENST00000644151.1:n.2277C>G
ENST00000644218.1:c.838C>G	ENSP00000493574.1:p.Leu280Val
ENST00000644683.1:c.*291C>G	ENSP00000494085.1:n.*291C>G
ENST00000644810.1:c.559C>G	ENSP00000495895.1:p.Leu187Val
ENST00000644831.1:n.1014C>G
ENST00000644933.1:c.109C>G	ENSP00000496133.1:p.Leu37Val
ENST00000645020.1:n.2128C>G
ENST00000645285.1:c.109C>G	ENSP00000495058.1:p.Leu37Val
ENST00000645331.1:n.1204C>G
ENST00000645620.1:c.109C>G	ENSP00000493657.1:p.Leu37Val
ENST00000646777.1:n.1014C>G
ENST00000647016.1:n.1318C>G
ENST00000647152.1:c.109C>G	ENSP00000495893.1:p.Leu37Val
ENST00000647209.1:c.*707C>G	ENSP00000495558.1:n.*707C>G
ENST00000647346.1:n.1858C>G
ENST00000299427.10:c.838C>G	ENSP00000299427.6:p.Leu280Val
ENST00000436873.6:c.451-206C>G	ENSP00000398136.2:n.451-206C>G
ENST00000524788.1:n.538C>G
ENST00000528807.1:n.388C>G
ENST00000533371.5:c.109C>G	ENSP00000437066.1:p.Leu37Val
ENST00000611494.4:c.838C>G	ENSP00000484546.1:p.Leu280Val
NM_000391.3:c.838C>G	NP_000382.3:p.Leu280Val
NM_000391.4:c.838C>G MANE Select	NP_000382.3:p.Leu280Val