Canonical Allele Identifier: CA6419080

Gene: TPI1

Linked Data

• dbSNP Id: rs782308993
• ExAC: 12:6979681 C / T
• gnomAD v2: 12-6979681-C-T
• gnomAD v3: 12-6870517-C-T
• gnomAD v4: 12-6870517-C-T
• MyVariant Identifiers: chr12:g.6979681C>T (hg19) ; chr12:g.6870517C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870517C>T , CM000674.2:g.6870517C>T	GRCh38
NC_000012.11:g.6979681C>T , CM000674.1:g.6979681C>T	GRCh37
NC_000012.10:g.6849942C>T	NCBI36
NG_011948.1:g.8098C>T
NG_013308.1:g.7841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.*134C>T MANE Select	ENSP00000379933.4:n.*134C>T
ENST00000229270.8:c.*134C>T	ENSP00000229270.4:n.*134C>T
ENST00000396705.9:c.*134C>T	ENSP00000379933.4:n.*134C>T
ENST00000474253.1:n.373C>T
ENST00000535434.5:c.*134C>T	ENSP00000443599.1:n.*134C>T
ENST00000613953.4:c.*134C>T	ENSP00000484435.1:n.*134C>T
NM_000365.5:c.*134C>T	NP_000356.1:n.*134C>T
NM_001159287.1:c.*134C>T	NP_001152759.1:n.*134C>T
NM_001258026.1:c.*134C>T	NP_001244955.1:n.*134C>T
XR_002957378.1:n.1892C>T
NM_000365.6:c.*134C>T MANE Select	NP_000356.1:n.*134C>T
NM_001258026.2:c.*134C>T	NP_001244955.1:n.*134C>T