Canonical Allele Identifier: CA6419092

Gene: TPI1

Linked Data

• dbSNP Id: rs148245028
• ExAC: 12:6979753 G / C
• gnomAD v2: 12-6979753-G-C
• gnomAD v3: 12-6870589-G-C
• gnomAD v4: 12-6870589-G-C
• MyVariant Identifiers: chr12:g.6979753G>C (hg19) ; chr12:g.6870589G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870589G>C , CM000674.2:g.6870589G>C	GRCh38
NC_000012.11:g.6979753G>C , CM000674.1:g.6979753G>C	GRCh37
NC_000012.10:g.6850014G>C	NCBI36
NG_011948.1:g.8170G>C
NG_013308.1:g.7769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*206G>C MANE Select	ENSP00000379933.4:n.*206G>C
ENST00000229270.8:c.*206G>C	ENSP00000229270.4:n.*206G>C
ENST00000396705.9:c.*206G>C	ENSP00000379933.4:n.*206G>C
ENST00000535434.5:c.*206G>C	ENSP00000443599.1:n.*206G>C
ENST00000613953.4:c.*206G>C	ENSP00000484435.1:n.*206G>C
NM_000365.5:c.*206G>C	NP_000356.1:n.*206G>C
NM_001159287.1:c.*206G>C	NP_001152759.1:n.*206G>C
NM_001258026.1:c.*206G>C	NP_001244955.1:n.*206G>C
XR_002957378.1:n.1964G>C
NM_000365.6:c.*206G>C MANE Select	NP_000356.1:n.*206G>C
NM_001258026.2:c.*206G>C	NP_001244955.1:n.*206G>C