Canonical Allele Identifier: CA6418980

Gene: TPI1

Linked Data

• dbSNP Id: rs782190000
• ExAC: 12:6979178 GA / G
• gnomAD v2: 12-6979178-GA-G
• gnomAD v3: 12-6870014-GA-G
• gnomAD v4: 12-6870014-GA-G
• MyVariant Identifiers: chr12:g.6979179del (hg19) ; chr12:g.6870016del (hg38) ; chr12:g.6870015del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870018del , CM000674.2:g.6870018del	GRCh38
NC_000012.11:g.6979182del , CM000674.1:g.6979182del	GRCh37
NC_000012.10:g.6849443del	NCBI36
NG_011948.1:g.7599del
NG_013308.1:g.8343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.544-31del MANE Select	ENSP00000379933.4:n.544-31del
ENST00000229270.8:c.655-31del	ENSP00000229270.4:n.655-31del
ENST00000396705.9:c.544-31del	ENSP00000379933.4:n.544-31del
ENST00000482209.1:n.227-18del
ENST00000488464.6:c.298-31del	ENSP00000475620.1:n.298-31del
ENST00000493987.5:c.298-31del	ENSP00000475364.1:n.298-31del
ENST00000535434.5:c.298-31del	ENSP00000443599.1:n.298-31del
ENST00000613953.4:c.655-31del	ENSP00000484435.1:n.655-31del
NM_000365.5:c.544-31del	NP_000356.1:n.544-31del
NM_001159287.1:c.655-31del	NP_001152759.1:n.655-31del
NM_001258026.1:c.298-31del	NP_001244955.1:n.298-31del
XR_002957378.1:n.1521del
NM_000365.6:c.544-31del MANE Select	NP_000356.1:n.544-31del
NM_001258026.2:c.298-31del	NP_001244955.1:n.298-31del