Canonical Allele Identifier: CA383714042

Gene: TPI1

Linked Data

• dbSNP Id: rs782349793
• gnomAD v3: 12-6870348-C-G
• gnomAD v4: 12-6870348-C-G
• MyVariant Identifiers: chr12:g.6979512C>G (hg19) ; chr12:g.6870348C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870348C>G , CM000674.2:g.6870348C>G	GRCh38
NC_000012.11:g.6979512C>G , CM000674.1:g.6979512C>G	GRCh37
NC_000012.10:g.6849773C>G	NCBI36
NG_011948.1:g.7929C>G
NG_013308.1:g.8010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.715C>G MANE Select	ENSP00000379933.4:p.Pro239Ala
ENST00000229270.8:c.826C>G	ENSP00000229270.4:p.Pro276Ala
ENST00000396705.9:c.715C>G	ENSP00000379933.4:p.Pro239Ala
ENST00000474253.1:n.204C>G
ENST00000488464.6:c.469C>G	ENSP00000475620.1:p.Pro157Ala
ENST00000535434.5:c.469C>G	ENSP00000443599.1:p.Pro157Ala
ENST00000613953.4:c.826C>G	ENSP00000484435.1:p.Pro276Ala
NM_000365.5:c.715C>G	NP_000356.1:p.Pro239Ala
NM_001159287.1:c.826C>G	NP_001152759.1:p.Pro276Ala
NM_001258026.1:c.469C>G	NP_001244955.1:p.Pro157Ala
XR_002957378.1:n.1723C>G
NM_000365.6:c.715C>G MANE Select	NP_000356.1:p.Pro239Ala
NM_001258026.2:c.469C>G	NP_001244955.1:p.Pro157Ala