Canonical Allele Identifier: CA383712893

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870083-T-C
• MyVariant Identifiers: chr12:g.6979247T>C (hg19) ; chr12:g.6870083T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870083T>C , CM000674.2:g.6870083T>C	GRCh38
NC_000012.11:g.6979247T>C , CM000674.1:g.6979247T>C	GRCh37
NC_000012.10:g.6849508T>C	NCBI36
NG_011948.1:g.7664T>C
NG_013308.1:g.8275A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.578T>C MANE Select	ENSP00000379933.4:p.Leu193Pro
ENST00000229270.8:c.689T>C	ENSP00000229270.4:p.Leu230Pro
ENST00000396705.9:c.578T>C	ENSP00000379933.4:p.Leu193Pro
ENST00000474253.1:n.67T>C
ENST00000482209.1:n.274T>C
ENST00000488464.6:c.332T>C	ENSP00000475620.1:p.Leu111Pro
ENST00000493987.5:c.332T>C	ENSP00000475364.1:p.Leu111Pro
ENST00000535434.5:c.332T>C	ENSP00000443599.1:p.Leu111Pro
ENST00000613953.4:c.689T>C	ENSP00000484435.1:p.Leu230Pro
NM_000365.5:c.578T>C	NP_000356.1:p.Leu193Pro
NM_001159287.1:c.689T>C	NP_001152759.1:p.Leu230Pro
NM_001258026.1:c.332T>C	NP_001244955.1:p.Leu111Pro
XR_002957378.1:n.1586T>C
NM_000365.6:c.578T>C MANE Select	NP_000356.1:p.Leu193Pro
NM_001258026.2:c.332T>C	NP_001244955.1:p.Leu111Pro