Canonical Allele Identifier: CA383712823

Gene: TPI1

Linked Data

• ClinVar Variation Id: 1366098
• ClinVar RCV Id: RCV001930036
• dbSNP Id: rs2138094675
• MyVariant Identifiers: chr12:g.6979233G>C (hg19) ; chr12:g.6870069G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870069G>C , CM000674.2:g.6870069G>C	GRCh38
NC_000012.11:g.6979233G>C , CM000674.1:g.6979233G>C	GRCh37
NC_000012.10:g.6849494G>C	NCBI36
NG_011948.1:g.7650G>C
NG_013308.1:g.8289C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.564G>C MANE Select	ENSP00000379933.4:p.Lys188Asn
ENST00000229270.8:c.675G>C	ENSP00000229270.4:p.Lys225Asn
ENST00000396705.9:c.564G>C	ENSP00000379933.4:p.Lys188Asn
ENST00000474253.1:n.53G>C
ENST00000482209.1:n.260G>C
ENST00000488464.6:c.318G>C	ENSP00000475620.1:p.Lys106Asn
ENST00000493987.5:c.318G>C	ENSP00000475364.1:p.Lys106Asn
ENST00000535434.5:c.318G>C	ENSP00000443599.1:p.Lys106Asn
ENST00000613953.4:c.675G>C	ENSP00000484435.1:p.Lys225Asn
NM_000365.5:c.564G>C	NP_000356.1:p.Lys188Asn
NM_001159287.1:c.675G>C	NP_001152759.1:p.Lys225Asn
NM_001258026.1:c.318G>C	NP_001244955.1:p.Lys106Asn
XR_002957378.1:n.1572G>C
NM_000365.6:c.564G>C MANE Select	NP_000356.1:p.Lys188Asn
NM_001258026.2:c.318G>C	NP_001244955.1:p.Lys106Asn