Canonical Allele Identifier: CA2617354921

Gene: TPI1

Linked Data

• gnomAD v4: 12-6870185-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870185C>A , CM000674.2:g.6870185C>A	GRCh38
NC_000012.11:g.6979349C>A , CM000674.1:g.6979349C>A	GRCh37
NC_000012.10:g.6849610C>A	NCBI36
NG_011948.1:g.7766C>A
NG_013308.1:g.8173G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.631+49C>A MANE Select	ENSP00000379933.4:n.631+49C>A
ENST00000229270.8:c.742+49C>A	ENSP00000229270.4:n.742+49C>A
ENST00000396705.9:c.631+49C>A	ENSP00000379933.4:n.631+49C>A
ENST00000474253.1:n.120+49C>A
ENST00000488464.6:c.385+49C>A	ENSP00000475620.1:n.385+49C>A
ENST00000535434.5:c.385+49C>A	ENSP00000443599.1:n.385+49C>A
ENST00000613953.4:c.742+49C>A	ENSP00000484435.1:n.742+49C>A
NM_000365.5:c.631+49C>A	NP_000356.1:n.631+49C>A
NM_001159287.1:c.742+49C>A	NP_001152759.1:n.742+49C>A
NM_001258026.1:c.385+49C>A	NP_001244955.1:n.385+49C>A
XR_002957378.1:n.1639+49C>A
NM_000365.6:c.631+49C>A MANE Select	NP_000356.1:n.631+49C>A
NM_001258026.2:c.385+49C>A	NP_001244955.1:n.385+49C>A