Canonical Allele Identifier: CA6418988

Gene: TPI1

Linked Data

• dbSNP Id: rs782244635
• ExAC: 12:6979214 C / T
• MyVariant Identifiers: chr12:g.6979214C>T (hg19) ; chr12:g.6870050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870050C>T , CM000674.2:g.6870050C>T	GRCh38
NC_000012.11:g.6979214C>T , CM000674.1:g.6979214C>T	GRCh37
NC_000012.10:g.6849475C>T	NCBI36
NG_011948.1:g.7631C>T
NG_013308.1:g.8308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.545C>T MANE Select	ENSP00000379933.4:p.Ala182Val
ENST00000229270.8:c.656C>T	ENSP00000229270.4:p.Ala219Val
ENST00000396705.9:c.545C>T	ENSP00000379933.4:p.Ala182Val
ENST00000474253.1:n.34C>T
ENST00000482209.1:n.241C>T
ENST00000488464.6:c.299C>T	ENSP00000475620.1:p.Ala100Val
ENST00000493987.5:c.299C>T	ENSP00000475364.1:p.Ala100Val
ENST00000535434.5:c.299C>T	ENSP00000443599.1:p.Ala100Val
ENST00000613953.4:c.656C>T	ENSP00000484435.1:p.Ala219Val
NM_000365.5:c.545C>T	NP_000356.1:p.Ala182Val
NM_001159287.1:c.656C>T	NP_001152759.1:p.Ala219Val
NM_001258026.1:c.299C>T	NP_001244955.1:p.Ala100Val
XR_002957378.1:n.1553C>T
NM_000365.6:c.545C>T MANE Select	NP_000356.1:p.Ala182Val
NM_001258026.2:c.299C>T	NP_001244955.1:p.Ala100Val