Canonical Allele Identifier: CA383713647

Gene: TPI1

Linked Data

• dbSNP Id: rs1401536509
• gnomAD v3: 12-6870298-C-A
• gnomAD v4: 12-6870298-C-A
• MyVariant Identifiers: chr12:g.6979462C>A (hg19) ; chr12:g.6870298C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870298C>A , CM000674.2:g.6870298C>A	GRCh38
NC_000012.11:g.6979462C>A , CM000674.1:g.6979462C>A	GRCh37
NC_000012.10:g.6849723C>A	NCBI36
NG_011948.1:g.7879C>A
NG_013308.1:g.8060G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.665C>A MANE Select	ENSP00000379933.4:p.Ala222Asp
ENST00000229270.8:c.776C>A	ENSP00000229270.4:p.Ala259Asp
ENST00000396705.9:c.665C>A	ENSP00000379933.4:p.Ala222Asp
ENST00000474253.1:n.154C>A
ENST00000488464.6:c.419C>A	ENSP00000475620.1:p.Ala140Asp
ENST00000535434.5:c.419C>A	ENSP00000443599.1:p.Ala140Asp
ENST00000613953.4:c.776C>A	ENSP00000484435.1:p.Ala259Asp
NM_000365.5:c.665C>A	NP_000356.1:p.Ala222Asp
NM_001159287.1:c.776C>A	NP_001152759.1:p.Ala259Asp
NM_001258026.1:c.419C>A	NP_001244955.1:p.Ala140Asp
XR_002957378.1:n.1673C>A
NM_000365.6:c.665C>A MANE Select	NP_000356.1:p.Ala222Asp
NM_001258026.2:c.419C>A	NP_001244955.1:p.Ala140Asp