Canonical Allele Identifier: CA383713627

Gene: TPI1

Linked Data

• dbSNP Id: rs1555132594
• gnomAD v2: 12-6979461-G-C
• MyVariant Identifiers: chr12:g.6979461G>C (hg19) ; chr12:g.6870297G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870297G>C , CM000674.2:g.6870297G>C	GRCh38
NC_000012.11:g.6979461G>C , CM000674.1:g.6979461G>C	GRCh37
NC_000012.10:g.6849722G>C	NCBI36
NG_011948.1:g.7878G>C
NG_013308.1:g.8061C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.664G>C MANE Select	ENSP00000379933.4:p.Ala222Pro
ENST00000229270.8:c.775G>C	ENSP00000229270.4:p.Ala259Pro
ENST00000396705.9:c.664G>C	ENSP00000379933.4:p.Ala222Pro
ENST00000474253.1:n.153G>C
ENST00000488464.6:c.418G>C	ENSP00000475620.1:p.Ala140Pro
ENST00000535434.5:c.418G>C	ENSP00000443599.1:p.Ala140Pro
ENST00000613953.4:c.775G>C	ENSP00000484435.1:p.Ala259Pro
NM_000365.5:c.664G>C	NP_000356.1:p.Ala222Pro
NM_001159287.1:c.775G>C	NP_001152759.1:p.Ala259Pro
NM_001258026.1:c.418G>C	NP_001244955.1:p.Ala140Pro
XR_002957378.1:n.1672G>C
NM_000365.6:c.664G>C MANE Select	NP_000356.1:p.Ala222Pro
NM_001258026.2:c.418G>C	NP_001244955.1:p.Ala140Pro