Canonical Allele Identifier: CA944389747

Gene: TPI1

Linked Data

• dbSNP Id: rs1944556698
• gnomAD v3: 12-6870198-C-T
• gnomAD v4: 12-6870198-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870198C>T , CM000674.2:g.6870198C>T	GRCh38
NC_000012.11:g.6979362C>T , CM000674.1:g.6979362C>T	GRCh37
NC_000012.10:g.6849623C>T	NCBI36
NG_011948.1:g.7779C>T
NG_013308.1:g.8160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.631+62C>T MANE Select	ENSP00000379933.4:n.631+62C>T
ENST00000229270.8:c.742+62C>T	ENSP00000229270.4:n.742+62C>T
ENST00000396705.9:c.631+62C>T	ENSP00000379933.4:n.631+62C>T
ENST00000474253.1:n.120+62C>T
ENST00000488464.6:c.385+62C>T	ENSP00000475620.1:n.385+62C>T
ENST00000535434.5:c.385+62C>T	ENSP00000443599.1:n.385+62C>T
ENST00000613953.4:c.742+62C>T	ENSP00000484435.1:n.742+62C>T
NM_000365.5:c.631+62C>T	NP_000356.1:n.631+62C>T
NM_001159287.1:c.742+62C>T	NP_001152759.1:n.742+62C>T
NM_001258026.1:c.385+62C>T	NP_001244955.1:n.385+62C>T
XR_002957378.1:n.1639+62C>T
NM_000365.6:c.631+62C>T MANE Select	NP_000356.1:n.631+62C>T
NM_001258026.2:c.385+62C>T	NP_001244955.1:n.385+62C>T