Canonical Allele Identifier: CA383709471
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1234315963
gnomAD v2: 12-6978042-C-T
gnomAD v3: 12-6868878-C-T
gnomAD v4: 12-6868878-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6868878C>T , CM000674.2:g.6868878C>T GRCh38
NC_000012.11:g.6978042C>T , CM000674.1:g.6978042C>T GRCh37
NC_000012.10:g.6848303C>T NCBI36
NG_011948.1:g.6459C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396705.10:c.130C>T MANE Select ENSP00000379933.4:p.Pro44Ser
ENST00000229270.8:c.241C>T ENSP00000229270.4:p.Pro81Ser
ENST00000396705.9:c.130C>T ENSP00000379933.4:p.Pro44Ser
ENST00000462761.5:c.-117C>T ENSP00000475184.1:n.-117C>T
ENST00000488464.6:c.-117C>T ENSP00000475620.1:n.-117C>T
ENST00000493987.5:c.-117C>T ENSP00000475364.1:n.-117C>T
ENST00000495834.1:c.-117C>T ENSP00000475829.1:n.-117C>T
ENST00000535434.5:c.-117C>T ENSP00000443599.1:n.-117C>T
ENST00000613953.4:c.241C>T ENSP00000484435.1:p.Pro81Ser
NM_000365.5:c.130C>T NP_000356.1:p.Pro44Ser
NM_001159287.1:c.241C>T NP_001152759.1:p.Pro81Ser
NM_001258026.1:c.-117C>T NP_001244955.1:n.-117C>T
XR_002957378.1:n.863C>T
NM_000365.6:c.130C>T MANE Select NP_000356.1:p.Pro44Ser
NM_001258026.2:c.-117C>T NP_001244955.1:n.-117C>T