Canonical Allele Identifier: CA6419083

Gene: TPI1

Linked Data

• dbSNP Id: rs782273202
• ExAC: 12:6979713 T / C
• gnomAD v2: 12-6979713-T-C
• gnomAD v3: 12-6870549-T-C
• gnomAD v4: 12-6870549-T-C
• MyVariant Identifiers: chr12:g.6979713T>C (hg19) ; chr12:g.6870549T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870549T>C , CM000674.2:g.6870549T>C	GRCh38
NC_000012.11:g.6979713T>C , CM000674.1:g.6979713T>C	GRCh37
NC_000012.10:g.6849974T>C	NCBI36
NG_011948.1:g.8130T>C
NG_013308.1:g.7809A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*166T>C MANE Select	ENSP00000379933.4:n.*166T>C
ENST00000229270.8:c.*166T>C	ENSP00000229270.4:n.*166T>C
ENST00000396705.9:c.*166T>C	ENSP00000379933.4:n.*166T>C
ENST00000474253.1:n.405T>C
ENST00000535434.5:c.*166T>C	ENSP00000443599.1:n.*166T>C
ENST00000613953.4:c.*166T>C	ENSP00000484435.1:n.*166T>C
NM_000365.5:c.*166T>C	NP_000356.1:n.*166T>C
NM_001159287.1:c.*166T>C	NP_001152759.1:n.*166T>C
NM_001258026.1:c.*166T>C	NP_001244955.1:n.*166T>C
XR_002957378.1:n.1924T>C
NM_000365.6:c.*166T>C MANE Select	NP_000356.1:n.*166T>C
NM_001258026.2:c.*166T>C	NP_001244955.1:n.*166T>C