Canonical Allele Identifier: CA383713545

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870283-C-A
• MyVariant Identifiers: chr12:g.6979447C>A (hg19) ; chr12:g.6870283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870283C>A , CM000674.2:g.6870283C>A	GRCh38
NC_000012.11:g.6979447C>A , CM000674.1:g.6979447C>A	GRCh37
NC_000012.10:g.6849708C>A	NCBI36
NG_011948.1:g.7864C>A
NG_013308.1:g.8075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.650C>A MANE Select	ENSP00000379933.4:p.Thr217Asn
ENST00000229270.8:c.761C>A	ENSP00000229270.4:p.Thr254Asn
ENST00000396705.9:c.650C>A	ENSP00000379933.4:p.Thr217Asn
ENST00000474253.1:n.139C>A
ENST00000488464.6:c.404C>A	ENSP00000475620.1:p.Thr135Asn
ENST00000535434.5:c.404C>A	ENSP00000443599.1:p.Thr135Asn
ENST00000613953.4:c.761C>A	ENSP00000484435.1:p.Thr254Asn
NM_000365.5:c.650C>A	NP_000356.1:p.Thr217Asn
NM_001159287.1:c.761C>A	NP_001152759.1:p.Thr254Asn
NM_001258026.1:c.404C>A	NP_001244955.1:p.Thr135Asn
XR_002957378.1:n.1658C>A
NM_000365.6:c.650C>A MANE Select	NP_000356.1:p.Thr217Asn
NM_001258026.2:c.404C>A	NP_001244955.1:p.Thr135Asn