Canonical Allele Identifier: CA232425220

Gene: TPI1

Linked Data

• dbSNP Id: rs1037955406
• gnomAD v2: 12-6979806-C-T
• gnomAD v3: 12-6870642-C-T
• gnomAD v4: 12-6870642-C-T
• MyVariant Identifiers: chr12:g.6979806C>T (hg19) ; chr12:g.6870642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870642C>T , CM000674.2:g.6870642C>T	GRCh38
NC_000012.11:g.6979806C>T , CM000674.1:g.6979806C>T	GRCh37
NC_000012.10:g.6850067C>T	NCBI36
NG_011948.1:g.8223C>T
NG_013308.1:g.7716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*259C>T MANE Select	ENSP00000379933.4:n.*259C>T
ENST00000229270.8:c.*259C>T	ENSP00000229270.4:n.*259C>T
ENST00000396705.9:c.*259C>T	ENSP00000379933.4:n.*259C>T
ENST00000535434.5:c.*259C>T	ENSP00000443599.1:n.*259C>T
ENST00000613953.4:c.*259C>T	ENSP00000484435.1:n.*259C>T
NM_000365.5:c.*259C>T	NP_000356.1:n.*259C>T
NM_001159287.1:c.*259C>T	NP_001152759.1:n.*259C>T
NM_001258026.1:c.*259C>T	NP_001244955.1:n.*259C>T
XR_002957378.1:n.2017C>T
NM_000365.6:c.*259C>T MANE Select	NP_000356.1:n.*259C>T
NM_001258026.2:c.*259C>T	NP_001244955.1:n.*259C>T