Canonical Allele Identifier: CA478165841

Gene: TPI1

Linked Data

• ClinVar Variation Id: 748640
• ClinVar RCV Id: RCV000925450
• dbSNP Id: rs1447240154
• gnomAD v2: 12-6979514-C-T
• gnomAD v3: 12-6870350-C-T
• gnomAD v4: 12-6870350-C-T
• MyVariant Identifiers: chr12:g.6979514C>T (hg19) ; chr12:g.6870350C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870350C>T , CM000674.2:g.6870350C>T	GRCh38
NC_000012.11:g.6979514C>T , CM000674.1:g.6979514C>T	GRCh37
NC_000012.10:g.6849775C>T	NCBI36
NG_011948.1:g.7931C>T
NG_013308.1:g.8008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.717C>T MANE Select	ENSP00000379933.4:p.Pro239=
ENST00000229270.8:c.828C>T	ENSP00000229270.4:p.Pro276=
ENST00000396705.9:c.717C>T	ENSP00000379933.4:p.Pro239=
ENST00000474253.1:n.206C>T
ENST00000488464.6:c.471C>T	ENSP00000475620.1:p.Pro157=
ENST00000535434.5:c.471C>T	ENSP00000443599.1:p.Pro157=
ENST00000613953.4:c.828C>T	ENSP00000484435.1:p.Pro276=
NM_000365.5:c.717C>T	NP_000356.1:p.Pro239=
NM_001159287.1:c.828C>T	NP_001152759.1:p.Pro276=
NM_001258026.1:c.471C>T	NP_001244955.1:p.Pro157=
XR_002957378.1:n.1725C>T
NM_000365.6:c.717C>T MANE Select	NP_000356.1:p.Pro239=
NM_001258026.2:c.471C>T	NP_001244955.1:p.Pro157=