Canonical Allele Identifier: CA6418989

Gene: TPI1

Linked Data

• dbSNP Id: rs781954607
• ExAC: 12:6979217 A / G
• gnomAD v2: 12-6979217-A-G
• MyVariant Identifiers: chr12:g.6979217A>G (hg19) ; chr12:g.6870053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870053A>G , CM000674.2:g.6870053A>G	GRCh38
NC_000012.11:g.6979217A>G , CM000674.1:g.6979217A>G	GRCh37
NC_000012.10:g.6849478A>G	NCBI36
NG_011948.1:g.7634A>G
NG_013308.1:g.8305T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.548A>G MANE Select	ENSP00000379933.4:p.Gln183Arg
ENST00000229270.8:c.659A>G	ENSP00000229270.4:p.Gln220Arg
ENST00000396705.9:c.548A>G	ENSP00000379933.4:p.Gln183Arg
ENST00000474253.1:n.37A>G
ENST00000482209.1:n.244A>G
ENST00000488464.6:c.302A>G	ENSP00000475620.1:p.Gln101Arg
ENST00000493987.5:c.302A>G	ENSP00000475364.1:p.Gln101Arg
ENST00000535434.5:c.302A>G	ENSP00000443599.1:p.Gln101Arg
ENST00000613953.4:c.659A>G	ENSP00000484435.1:p.Gln220Arg
NM_000365.5:c.548A>G	NP_000356.1:p.Gln183Arg
NM_001159287.1:c.659A>G	NP_001152759.1:p.Gln220Arg
NM_001258026.1:c.302A>G	NP_001244955.1:p.Gln101Arg
XR_002957378.1:n.1556A>G
NM_000365.6:c.548A>G MANE Select	NP_000356.1:p.Gln183Arg
NM_001258026.2:c.302A>G	NP_001244955.1:p.Gln101Arg