Canonical Allele Identifier: CA383709477
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1749356459
gnomAD v3: 12-6868881-C-G
gnomAD v4: 12-6868881-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6868881C>G , CM000674.2:g.6868881C>G GRCh38
NC_000012.11:g.6978045C>G , CM000674.1:g.6978045C>G GRCh37
NC_000012.10:g.6848306C>G NCBI36
NG_011948.1:g.6462C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396705.10:c.133C>G MANE Select ENSP00000379933.4:p.Pro45Ala
ENST00000229270.8:c.244C>G ENSP00000229270.4:p.Pro82Ala
ENST00000396705.9:c.133C>G ENSP00000379933.4:p.Pro45Ala
ENST00000462761.5:c.-114C>G ENSP00000475184.1:n.-114C>G
ENST00000488464.6:c.-114C>G ENSP00000475620.1:n.-114C>G
ENST00000493987.5:c.-114C>G ENSP00000475364.1:n.-114C>G
ENST00000495834.1:c.-114C>G ENSP00000475829.1:n.-114C>G
ENST00000535434.5:c.-114C>G ENSP00000443599.1:n.-114C>G
ENST00000613953.4:c.244C>G ENSP00000484435.1:p.Pro82Ala
NM_000365.5:c.133C>G NP_000356.1:p.Pro45Ala
NM_001159287.1:c.244C>G NP_001152759.1:p.Pro82Ala
NM_001258026.1:c.-114C>G NP_001244955.1:n.-114C>G
XR_002957378.1:n.866C>G
NM_000365.6:c.133C>G MANE Select NP_000356.1:p.Pro45Ala
NM_001258026.2:c.-114C>G NP_001244955.1:n.-114C>G