Canonical Allele Identifier: CA6419063

Gene: TPI1

Linked Data

• ClinVar Variation Id: 310366
• ClinVar RCV Id: RCV000301360
• dbSNP Id: rs782061169
• ExAC: 12:6979616 C / T
• gnomAD v2: 12-6979616-C-T
• gnomAD v4: 12-6870452-C-T
• MyVariant Identifiers: chr12:g.6979616C>T (hg19) ; chr12:g.6870452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870452C>T , CM000674.2:g.6870452C>T	GRCh38
NC_000012.11:g.6979616C>T , CM000674.1:g.6979616C>T	GRCh37
NC_000012.10:g.6849877C>T	NCBI36
NG_011948.1:g.8033C>T
NG_013308.1:g.7906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*69C>T MANE Select	ENSP00000379933.4:n.*69C>T
ENST00000229270.8:c.*69C>T	ENSP00000229270.4:n.*69C>T
ENST00000396705.9:c.*69C>T	ENSP00000379933.4:n.*69C>T
ENST00000474253.1:n.308C>T
ENST00000535434.5:c.*69C>T	ENSP00000443599.1:n.*69C>T
ENST00000613953.4:c.*69C>T	ENSP00000484435.1:n.*69C>T
NM_000365.5:c.*69C>T	NP_000356.1:n.*69C>T
NM_001159287.1:c.*69C>T	NP_001152759.1:n.*69C>T
NM_001258026.1:c.*69C>T	NP_001244955.1:n.*69C>T
XR_002957378.1:n.1827C>T
NM_000365.6:c.*69C>T MANE Select	NP_000356.1:n.*69C>T
NM_001258026.2:c.*69C>T	NP_001244955.1:n.*69C>T