Canonical Allele Identifier: CA603133046
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1555132881
gnomAD v2: 12-6979836-G-A
gnomAD v4: 12-6870672-G-A
MyVariant Identifiers: chr12:g.6979836G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870672G>A , CM000674.2:g.6870672G>A GRCh38
NC_000012.11:g.6979836G>A , CM000674.1:g.6979836G>A GRCh37
NC_000012.10:g.6850097G>A NCBI36
NG_011948.1:g.8253G>A
NG_013308.1:g.7686C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.*289G>A MANE Select ENSP00000379933.4:n.*289G>A
ENST00000229270.8:c.*289G>A ENSP00000229270.4:n.*289G>A
ENST00000396705.9:c.*289G>A ENSP00000379933.4:n.*289G>A
ENST00000535434.5:c.*289G>A ENSP00000443599.1:n.*289G>A
ENST00000613953.4:c.*289G>A ENSP00000484435.1:n.*289G>A
NM_000365.5:c.*289G>A NP_000356.1:n.*289G>A
NM_001159287.1:c.*289G>A NP_001152759.1:n.*289G>A
NM_001258026.1:c.*289G>A NP_001244955.1:n.*289G>A
XR_002957378.1:n.2047G>A
NM_000365.6:c.*289G>A MANE Select NP_000356.1:n.*289G>A
NM_001258026.2:c.*289G>A NP_001244955.1:n.*289G>A