Canonical Allele Identifier: CA383713419

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870265-G-C
• MyVariant Identifiers: chr12:g.6979429G>C (hg19) ; chr12:g.6870265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870265G>C , CM000674.2:g.6870265G>C	GRCh38
NC_000012.11:g.6979429G>C , CM000674.1:g.6979429G>C	GRCh37
NC_000012.10:g.6849690G>C	NCBI36
NG_011948.1:g.7846G>C
NG_013308.1:g.8093C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396705.10:c.632G>C MANE Select	ENSP00000379933.4:p.Gly211Ala
ENST00000229270.8:c.743G>C	ENSP00000229270.4:p.Gly248Ala
ENST00000396705.9:c.632G>C	ENSP00000379933.4:p.Gly211Ala
ENST00000474253.1:n.121G>C
ENST00000488464.6:c.386G>C	ENSP00000475620.1:p.Gly129Ala
ENST00000535434.5:c.386G>C	ENSP00000443599.1:p.Gly129Ala
ENST00000613953.4:c.743G>C	ENSP00000484435.1:p.Gly248Ala
NM_000365.5:c.632G>C	NP_000356.1:p.Gly211Ala
NM_001159287.1:c.743G>C	NP_001152759.1:p.Gly248Ala
NM_001258026.1:c.386G>C	NP_001244955.1:p.Gly129Ala
XR_002957378.1:n.1640G>C
NM_000365.6:c.632G>C MANE Select	NP_000356.1:p.Gly211Ala
NM_001258026.2:c.386G>C	NP_001244955.1:p.Gly129Ala