Canonical Allele Identifier: CA217323352

Gene: TPP1

Linked Data

• dbSNP Id: rs1024167365
• MyVariant Identifiers: chr11:g.6638222C>A (hg19) ; chr11:g.6616991C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616991C>A , CM000673.2:g.6616991C>A	GRCh38
NC_000011.9:g.6638222C>A , CM000673.1:g.6638222C>A	GRCh37
NC_000011.8:g.6594798C>A	NCBI36
NG_008653.1:g.7471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.557G>T	ENSP00000507321.1:p.Ser186Ile
ENST00000299427.12:c.671G>T MANE Select	ENSP00000299427.6:p.Ser224Ile
ENST00000436873.7:c.312+310G>T
ENST00000524788.2:n.1830G>T
ENST00000524903.2:n.1946G>T
ENST00000528807.2:n.327G>T
ENST00000530040.2:n.479+368G>T
ENST00000533371.6:c.-59G>T	ENSP00000437066.1:n.-59G>T
ENST00000534644.6:n.619G>T
ENST00000642892.1:c.-59G>T	ENSP00000494165.1:n.-59G>T
ENST00000643439.1:c.*411G>T	ENSP00000495849.1:n.*411G>T
ENST00000643479.1:n.700G>T
ENST00000643516.1:c.395+310G>T
ENST00000644151.1:n.2110G>T
ENST00000644218.1:c.671G>T	ENSP00000493574.1:p.Ser224Ile
ENST00000644683.1:c.*124G>T	ENSP00000494085.1:n.*124G>T
ENST00000644810.1:c.392G>T	ENSP00000495895.1:p.Ser131Ile
ENST00000644831.1:n.847G>T
ENST00000644933.1:c.-59G>T	ENSP00000496133.1:n.-59G>T
ENST00000645020.1:n.1846G>T
ENST00000645285.1:c.-59G>T	ENSP00000495058.1:n.-59G>T
ENST00000645331.1:n.1037G>T
ENST00000645620.1:c.-59G>T	ENSP00000493657.1:n.-59G>T
ENST00000646777.1:n.847G>T
ENST00000647016.1:n.1151G>T
ENST00000647152.1:c.-59G>T	ENSP00000495893.1:n.-59G>T
ENST00000647209.1:c.*540G>T	ENSP00000495558.1:n.*540G>T
ENST00000647346.1:n.1691G>T
ENST00000299427.10:c.671G>T	ENSP00000299427.6:p.Ser224Ile
ENST00000428886.6:n.840G>T
ENST00000436873.6:c.450+368G>T	ENSP00000398136.2:n.450+368G>T
ENST00000524788.1:n.371G>T
ENST00000528571.5:c.*411G>T	ENSP00000434647.1:n.*411G>T
ENST00000528807.1:n.221G>T
ENST00000533371.5:c.-59G>T	ENSP00000437066.1:n.-59G>T
ENST00000611494.4:c.671G>T	ENSP00000484546.1:p.Ser224Ile
NM_000391.3:c.671G>T	NP_000382.3:p.Ser224Ile
NM_000391.4:c.671G>T MANE Select	NP_000382.3:p.Ser224Ile