Canonical Allele Identifier: CA6419028

Gene: TPI1

Linked Data

• ClinVar Variation Id: 2911597
• ClinVar RCV Id: RCV003738577
• dbSNP Id: rs148609987
• ExAC: 12:6979433 T / A
• gnomAD v2: 12-6979433-T-A
• gnomAD v3: 12-6870269-T-A
• gnomAD v4: 12-6870269-T-A
• MyVariant Identifiers: chr12:g.6979433T>A (hg19) ; chr12:g.6870269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870269T>A , CM000674.2:g.6870269T>A	GRCh38
NC_000012.11:g.6979433T>A , CM000674.1:g.6979433T>A	GRCh37
NC_000012.10:g.6849694T>A	NCBI36
NG_011948.1:g.7850T>A
NG_013308.1:g.8089A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396705.10:c.636T>A MANE Select	ENSP00000379933.4:p.Ser212=
ENST00000229270.8:c.747T>A	ENSP00000229270.4:p.Ser249=
ENST00000396705.9:c.636T>A	ENSP00000379933.4:p.Ser212=
ENST00000474253.1:n.125T>A
ENST00000488464.6:c.390T>A	ENSP00000475620.1:p.Ser130=
ENST00000535434.5:c.390T>A	ENSP00000443599.1:p.Ser130=
ENST00000613953.4:c.747T>A	ENSP00000484435.1:p.Ser249=
NM_000365.5:c.636T>A	NP_000356.1:p.Ser212=
NM_001159287.1:c.747T>A	NP_001152759.1:p.Ser249=
NM_001258026.1:c.390T>A	NP_001244955.1:p.Ser130=
XR_002957378.1:n.1644T>A
NM_000365.6:c.636T>A MANE Select	NP_000356.1:p.Ser212=
NM_001258026.2:c.390T>A	NP_001244955.1:p.Ser130=