Canonical Allele Identifier: CA6419082
Gene: TPI1 HGNC NCBI

Linked Data

dbSNP Id: rs782007841
gnomAD v2: 12-6979707-C-G
gnomAD v3: 12-6870543-C-G
gnomAD v4: 12-6870543-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6870543C>G , CM000674.2:g.6870543C>G GRCh38
NC_000012.11:g.6979707C>G , CM000674.1:g.6979707C>G GRCh37
NC_000012.10:g.6849968C>G NCBI36
NG_011948.1:g.8124C>G
NG_013308.1:g.7815G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396705.10:c.*160C>G MANE Select ENSP00000379933.4:n.*160C>G
ENST00000229270.8:c.*160C>G ENSP00000229270.4:n.*160C>G
ENST00000396705.9:c.*160C>G ENSP00000379933.4:n.*160C>G
ENST00000474253.1:n.399C>G
ENST00000535434.5:c.*160C>G ENSP00000443599.1:n.*160C>G
ENST00000613953.4:c.*160C>G ENSP00000484435.1:n.*160C>G
NM_000365.5:c.*160C>G NP_000356.1:n.*160C>G
NM_001159287.1:c.*160C>G NP_001152759.1:n.*160C>G
NM_001258026.1:c.*160C>G NP_001244955.1:n.*160C>G
XR_002957378.1:n.1918C>G
NM_000365.6:c.*160C>G MANE Select NP_000356.1:n.*160C>G
NM_001258026.2:c.*160C>G NP_001244955.1:n.*160C>G