Canonical Allele Identifier: CA603133048
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1555132894
gnomAD v2: 12-6979850-A-C
gnomAD v4: 12-6870686-A-C
MyVariant Identifiers: chr12:g.6979850A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870686A>C , CM000674.2:g.6870686A>C GRCh38
NC_000012.11:g.6979850A>C , CM000674.1:g.6979850A>C GRCh37
NC_000012.10:g.6850111A>C NCBI36
NG_011948.1:g.8267A>C
NG_013308.1:g.7672T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.*303A>C MANE Select ENSP00000379933.4:n.*303A>C
ENST00000229270.8:c.*303A>C ENSP00000229270.4:n.*303A>C
ENST00000396705.9:c.*303A>C ENSP00000379933.4:n.*303A>C
ENST00000535434.5:c.*303A>C ENSP00000443599.1:n.*303A>C
ENST00000613953.4:c.*303A>C ENSP00000484435.1:n.*303A>C
NM_000365.5:c.*303A>C NP_000356.1:n.*303A>C
NM_001159287.1:c.*303A>C NP_001152759.1:n.*303A>C
NM_001258026.1:c.*303A>C NP_001244955.1:n.*303A>C
XR_002957378.1:n.2061A>C
NM_000365.6:c.*303A>C MANE Select NP_000356.1:n.*303A>C
NM_001258026.2:c.*303A>C NP_001244955.1:n.*303A>C