Canonical Allele Identifier: CA232421122

Gene: TPI1

Linked Data

• dbSNP Id: rs1012340893
• gnomAD v4: 12-6868882-C-T
• MyVariant Identifiers: chr12:g.6978046C>T (hg19) ; chr12:g.6868882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6868882C>T , CM000674.2:g.6868882C>T	GRCh38
NC_000012.11:g.6978046C>T , CM000674.1:g.6978046C>T	GRCh37
NC_000012.10:g.6848307C>T	NCBI36
NG_011948.1:g.6463C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396705.10:c.134C>T MANE Select	ENSP00000379933.4:p.Pro45Leu
ENST00000229270.8:c.245C>T	ENSP00000229270.4:p.Pro82Leu
ENST00000396705.9:c.134C>T	ENSP00000379933.4:p.Pro45Leu
ENST00000462761.5:c.-113C>T	ENSP00000475184.1:n.-113C>T
ENST00000488464.6:c.-113C>T	ENSP00000475620.1:n.-113C>T
ENST00000493987.5:c.-113C>T	ENSP00000475364.1:n.-113C>T
ENST00000495834.1:c.-113C>T	ENSP00000475829.1:n.-113C>T
ENST00000535434.5:c.-113C>T	ENSP00000443599.1:n.-113C>T
ENST00000613953.4:c.245C>T	ENSP00000484435.1:p.Pro82Leu
NM_000365.5:c.134C>T	NP_000356.1:p.Pro45Leu
NM_001159287.1:c.245C>T	NP_001152759.1:p.Pro82Leu
NM_001258026.1:c.-113C>T	NP_001244955.1:n.-113C>T
XR_002957378.1:n.867C>T
NM_000365.6:c.134C>T MANE Select	NP_000356.1:p.Pro45Leu
NM_001258026.2:c.-113C>T	NP_001244955.1:n.-113C>T