Canonical Allele Identifier: CA478164563
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1555132034
gnomAD v3: 12-6868880-C-G
gnomAD v4: 12-6868880-C-G
MyVariant Identifiers: chr12:g.6978044C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6868880C>G , CM000674.2:g.6868880C>G GRCh38
NC_000012.11:g.6978044C>G , CM000674.1:g.6978044C>G GRCh37
NC_000012.10:g.6848305C>G NCBI36
NG_011948.1:g.6461C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396705.10:c.132C>G MANE Select ENSP00000379933.4:p.Pro44=
ENST00000229270.8:c.243C>G ENSP00000229270.4:p.Pro81=
ENST00000396705.9:c.132C>G ENSP00000379933.4:p.Pro44=
ENST00000462761.5:c.-115C>G ENSP00000475184.1:n.-115C>G
ENST00000488464.6:c.-115C>G ENSP00000475620.1:n.-115C>G
ENST00000493987.5:c.-115C>G ENSP00000475364.1:n.-115C>G
ENST00000495834.1:c.-115C>G ENSP00000475829.1:n.-115C>G
ENST00000535434.5:c.-115C>G ENSP00000443599.1:n.-115C>G
ENST00000613953.4:c.243C>G ENSP00000484435.1:p.Pro81=
NM_000365.5:c.132C>G NP_000356.1:p.Pro44=
NM_001159287.1:c.243C>G NP_001152759.1:p.Pro81=
NM_001258026.1:c.-115C>G NP_001244955.1:n.-115C>G
XR_002957378.1:n.865C>G
NM_000365.6:c.132C>G MANE Select NP_000356.1:p.Pro44=
NM_001258026.2:c.-115C>G NP_001244955.1:n.-115C>G