Canonical Allele Identifier: CA6419037

Gene: TPI1

Linked Data

• ClinVar Variation Id: 1914973
• ClinVar RCV Id: RCV002597958
• dbSNP Id: rs781975436
• ExAC: 12:6979520 C / T
• gnomAD v2: 12-6979520-C-T
• gnomAD v3: 12-6870356-C-T
• gnomAD v4: 12-6870356-C-T
• MyVariant Identifiers: chr12:g.6979520C>T (hg19) ; chr12:g.6870356C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870356C>T , CM000674.2:g.6870356C>T	GRCh38
NC_000012.11:g.6979520C>T , CM000674.1:g.6979520C>T	GRCh37
NC_000012.10:g.6849781C>T	NCBI36
NG_011948.1:g.7937C>T
NG_013308.1:g.8002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.723C>T MANE Select	ENSP00000379933.4:p.Phe241=
ENST00000229270.8:c.834C>T	ENSP00000229270.4:p.Phe278=
ENST00000396705.9:c.723C>T	ENSP00000379933.4:p.Phe241=
ENST00000474253.1:n.212C>T
ENST00000488464.6:c.477C>T	ENSP00000475620.1:p.Phe159=
ENST00000535434.5:c.477C>T	ENSP00000443599.1:p.Phe159=
ENST00000613953.4:c.834C>T	ENSP00000484435.1:p.Phe278=
NM_000365.5:c.723C>T	NP_000356.1:p.Phe241=
NM_001159287.1:c.834C>T	NP_001152759.1:p.Phe278=
NM_001258026.1:c.477C>T	NP_001244955.1:p.Phe159=
XR_002957378.1:n.1731C>T
NM_000365.6:c.723C>T MANE Select	NP_000356.1:p.Phe241=
NM_001258026.2:c.477C>T	NP_001244955.1:p.Phe159=