Canonical Allele Identifier: CA603132930
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1278473718
gnomAD v2: 12-6979391-C-A
gnomAD v3: 12-6870227-C-A
gnomAD v4: 12-6870227-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870227C>A , CM000674.2:g.6870227C>A GRCh38
NC_000012.11:g.6979391C>A , CM000674.1:g.6979391C>A GRCh37
NC_000012.10:g.6849652C>A NCBI36
NG_011948.1:g.7808C>A
NG_013308.1:g.8131G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.632-38C>A MANE Select ENSP00000379933.4:n.632-38C>A
ENST00000229270.8:c.743-38C>A ENSP00000229270.4:n.743-38C>A
ENST00000396705.9:c.632-38C>A ENSP00000379933.4:n.632-38C>A
ENST00000474253.1:n.121-38C>A
ENST00000488464.6:c.386-38C>A ENSP00000475620.1:n.386-38C>A
ENST00000535434.5:c.386-38C>A ENSP00000443599.1:n.386-38C>A
ENST00000613953.4:c.743-38C>A ENSP00000484435.1:n.743-38C>A
NM_000365.5:c.632-38C>A NP_000356.1:n.632-38C>A
NM_001159287.1:c.743-38C>A NP_001152759.1:n.743-38C>A
NM_001258026.1:c.386-38C>A NP_001244955.1:n.386-38C>A
XR_002957378.1:n.1640-38C>A
NM_000365.6:c.632-38C>A MANE Select NP_000356.1:n.632-38C>A
NM_001258026.2:c.386-38C>A NP_001244955.1:n.386-38C>A