Canonical Allele Identifier: CA6419048
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs782668491
gnomAD v2: 12-6979571-T-C
gnomAD v4: 12-6870407-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870407T>C , CM000674.2:g.6870407T>C GRCh38
NC_000012.11:g.6979571T>C , CM000674.1:g.6979571T>C GRCh37
NC_000012.10:g.6849832T>C NCBI36
NG_011948.1:g.7988T>C
NG_013308.1:g.7951A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.*24T>C MANE Select ENSP00000379933.4:n.*24T>C
ENST00000229270.8:c.*24T>C ENSP00000229270.4:n.*24T>C
ENST00000396705.9:c.*24T>C ENSP00000379933.4:n.*24T>C
ENST00000474253.1:n.263T>C
ENST00000535434.5:c.*24T>C ENSP00000443599.1:n.*24T>C
ENST00000613953.4:c.*24T>C ENSP00000484435.1:n.*24T>C
NM_000365.5:c.*24T>C NP_000356.1:n.*24T>C
NM_001159287.1:c.*24T>C NP_001152759.1:n.*24T>C
NM_001258026.1:c.*24T>C NP_001244955.1:n.*24T>C
XR_002957378.1:n.1782T>C
NM_000365.6:c.*24T>C MANE Select NP_000356.1:n.*24T>C
NM_001258026.2:c.*24T>C NP_001244955.1:n.*24T>C