Canonical Allele Identifier: CA383713447

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870270-G-T
• COSMIC: COSM140681
• MyVariant Identifiers: chr12:g.6979434G>T (hg19) ; chr12:g.6870270G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870270G>T , CM000674.2:g.6870270G>T	GRCh38
NC_000012.11:g.6979434G>T , CM000674.1:g.6979434G>T	GRCh37
NC_000012.10:g.6849695G>T	NCBI36
NG_011948.1:g.7851G>T
NG_013308.1:g.8088C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396705.10:c.637G>T MANE Select	ENSP00000379933.4:p.Val213Leu
ENST00000229270.8:c.748G>T	ENSP00000229270.4:p.Val250Leu
ENST00000396705.9:c.637G>T	ENSP00000379933.4:p.Val213Leu
ENST00000474253.1:n.126G>T
ENST00000488464.6:c.391G>T	ENSP00000475620.1:p.Val131Leu
ENST00000535434.5:c.391G>T	ENSP00000443599.1:p.Val131Leu
ENST00000613953.4:c.748G>T	ENSP00000484435.1:p.Val250Leu
NM_000365.5:c.637G>T	NP_000356.1:p.Val213Leu
NM_001159287.1:c.748G>T	NP_001152759.1:p.Val250Leu
NM_001258026.1:c.391G>T	NP_001244955.1:p.Val131Leu
XR_002957378.1:n.1645G>T
NM_000365.6:c.637G>T MANE Select	NP_000356.1:p.Val213Leu
NM_001258026.2:c.391G>T	NP_001244955.1:p.Val131Leu