Canonical Allele Identifier: CA6419095

Gene: TPI1

Linked Data

• dbSNP Id: rs782268446
• ExAC: 12:6979760 A / C
• gnomAD v2: 12-6979760-A-C
• gnomAD v3: 12-6870596-A-C
• gnomAD v4: 12-6870596-A-C
• MyVariant Identifiers: chr12:g.6979760A>C (hg19) ; chr12:g.6870596A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870596A>C , CM000674.2:g.6870596A>C	GRCh38
NC_000012.11:g.6979760A>C , CM000674.1:g.6979760A>C	GRCh37
NC_000012.10:g.6850021A>C	NCBI36
NG_011948.1:g.8177A>C
NG_013308.1:g.7762T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*213A>C MANE Select	ENSP00000379933.4:n.*213A>C
ENST00000229270.8:c.*213A>C	ENSP00000229270.4:n.*213A>C
ENST00000396705.9:c.*213A>C	ENSP00000379933.4:n.*213A>C
ENST00000535434.5:c.*213A>C	ENSP00000443599.1:n.*213A>C
ENST00000613953.4:c.*213A>C	ENSP00000484435.1:n.*213A>C
NM_000365.5:c.*213A>C	NP_000356.1:n.*213A>C
NM_001159287.1:c.*213A>C	NP_001152759.1:n.*213A>C
NM_001258026.1:c.*213A>C	NP_001244955.1:n.*213A>C
XR_002957378.1:n.1971A>C
NM_000365.6:c.*213A>C MANE Select	NP_000356.1:n.*213A>C
NM_001258026.2:c.*213A>C	NP_001244955.1:n.*213A>C