Canonical Allele Identifier: CA603133030

Gene: TPI1

Linked Data

• ClinVar Variation Id: 883012
• ClinVar RCV Id: RCV001113137
• dbSNP Id: rs1191018741
• gnomAD v2: 12-6979720-G-A
• gnomAD v4: 12-6870556-G-A
• MyVariant Identifiers: chr12:g.6979720G>A (hg19) ; chr12:g.6870556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870556G>A , CM000674.2:g.6870556G>A	GRCh38
NC_000012.11:g.6979720G>A , CM000674.1:g.6979720G>A	GRCh37
NC_000012.10:g.6849981G>A	NCBI36
NG_011948.1:g.8137G>A
NG_013308.1:g.7802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*173G>A MANE Select	ENSP00000379933.4:n.*173G>A
ENST00000229270.8:c.*173G>A	ENSP00000229270.4:n.*173G>A
ENST00000396705.9:c.*173G>A	ENSP00000379933.4:n.*173G>A
ENST00000474253.1:n.412G>A
ENST00000535434.5:c.*173G>A	ENSP00000443599.1:n.*173G>A
ENST00000613953.4:c.*173G>A	ENSP00000484435.1:n.*173G>A
NM_000365.5:c.*173G>A	NP_000356.1:n.*173G>A
NM_001159287.1:c.*173G>A	NP_001152759.1:n.*173G>A
NM_001258026.1:c.*173G>A	NP_001244955.1:n.*173G>A
XR_002957378.1:n.1931G>A
NM_000365.6:c.*173G>A MANE Select	NP_000356.1:n.*173G>A
NM_001258026.2:c.*173G>A	NP_001244955.1:n.*173G>A