Canonical Allele Identifier: CA6418966

Gene: TPI1

Linked Data

• ClinVar Variation Id: 310361
• ClinVar RCV Id: RCV000348819 ; RCV000980286
• dbSNP Id: rs782153322
• ExAC: 12:6978942 C / G
• gnomAD v2: 12-6978942-C-G
• gnomAD v3: 12-6869778-C-G
• gnomAD v4: 12-6869778-C-G
• MyVariant Identifiers: chr12:g.6978942C>G (hg19) ; chr12:g.6869778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6869778C>G , CM000674.2:g.6869778C>G	GRCh38
NC_000012.11:g.6978942C>G , CM000674.1:g.6978942C>G	GRCh37
NC_000012.10:g.6849203C>G	NCBI36
NG_011948.1:g.7359C>G
NG_013308.1:g.8580G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396705.10:c.543+5C>G MANE Select	ENSP00000379933.4:n.543+5C>G
ENST00000229270.8:c.654+5C>G	ENSP00000229270.4:n.654+5C>G
ENST00000396705.9:c.543+5C>G	ENSP00000379933.4:n.543+5C>G
ENST00000482209.1:n.226+5C>G
ENST00000488464.6:c.297+5C>G	ENSP00000475620.1:n.297+5C>G
ENST00000493987.5:c.297+5C>G	ENSP00000475364.1:n.297+5C>G
ENST00000535434.5:c.297+5C>G	ENSP00000443599.1:n.297+5C>G
ENST00000613953.4:c.654+5C>G	ENSP00000484435.1:n.654+5C>G
NM_000365.5:c.543+5C>G	NP_000356.1:n.543+5C>G
NM_001159287.1:c.654+5C>G	NP_001152759.1:n.654+5C>G
NM_001258026.1:c.297+5C>G	NP_001244955.1:n.297+5C>G
XR_002957378.1:n.1281C>G
NM_000365.6:c.543+5C>G MANE Select	NP_000356.1:n.543+5C>G
NM_001258026.2:c.297+5C>G	NP_001244955.1:n.297+5C>G