Canonical Allele Identifier: CA2617354124
Gene: TPI1 HGNC NCBI

Linked Data

gnomAD v4: 12-6869876-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6869876C>T , CM000674.2:g.6869876C>T GRCh38
NC_000012.11:g.6979040C>T , CM000674.1:g.6979040C>T GRCh37
NC_000012.10:g.6849301C>T NCBI36
NG_011948.1:g.7457C>T
NG_013308.1:g.8482G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396705.10:c.543+103C>T MANE Select ENSP00000379933.4:n.543+103C>T
ENST00000229270.8:c.654+103C>T ENSP00000229270.4:n.654+103C>T
ENST00000396705.9:c.543+103C>T ENSP00000379933.4:n.543+103C>T
ENST00000482209.1:n.226+103C>T
ENST00000488464.6:c.297+103C>T ENSP00000475620.1:n.297+103C>T
ENST00000493987.5:c.297+103C>T ENSP00000475364.1:n.297+103C>T
ENST00000535434.5:c.297+103C>T ENSP00000443599.1:n.297+103C>T
ENST00000613953.4:c.654+103C>T ENSP00000484435.1:n.654+103C>T
NM_000365.5:c.543+103C>T NP_000356.1:n.543+103C>T
NM_001159287.1:c.654+103C>T NP_001152759.1:n.654+103C>T
NM_001258026.1:c.297+103C>T NP_001244955.1:n.297+103C>T
XR_002957378.1:n.1379C>T
NM_000365.6:c.543+103C>T MANE Select NP_000356.1:n.543+103C>T
NM_001258026.2:c.297+103C>T NP_001244955.1:n.297+103C>T