Canonical Allele Identifier: CA603133006

Gene: TPI1

Linked Data

• dbSNP Id: rs1234262564
• gnomAD v2: 12-6979542-C-CA
• gnomAD v4: 12-6870378-C-CA
• MyVariant Identifiers: chr12:g.6979542_6979543insA (hg19) ; chr12:g.6870378_6870379insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870380dup , CM000674.2:g.6870380dup	GRCh38
NC_000012.11:g.6979544dup , CM000674.1:g.6979544dup	GRCh37
NC_000012.10:g.6849805dup	NCBI36
NG_011948.1:g.7961dup
NG_013308.1:g.7979dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.747dup MANE Select	ENSP00000379933.4:p.Ter250MetextTer16
ENST00000229270.8:c.858dup	ENSP00000229270.4:p.Ter287MetextTer16
ENST00000396705.9:c.747dup	ENSP00000379933.4:p.Ter250MetextTer16
ENST00000474253.1:n.236dup
ENST00000488464.6:c.501dup	ENSP00000475620.1:p.Ter168MetextTer?
ENST00000535434.5:c.501dup	ENSP00000443599.1:p.Ter168MetextTer16
ENST00000613953.4:c.858dup	ENSP00000484435.1:p.Ter287MetextTer16
NM_000365.5:c.747dup	NP_000356.1:p.Ter250MetextTer16
NM_001159287.1:c.858dup	NP_001152759.1:p.Ter287MetextTer16
NM_001258026.1:c.501dup	NP_001244955.1:p.Ter168MetextTer16
XR_002957378.1:n.1755dup
NM_000365.6:c.747dup MANE Select	NP_000356.1:p.Ter250MetextTer16
NM_001258026.2:c.501dup	NP_001244955.1:p.Ter168MetextTer16