Canonical Allele Identifier: CA383714031

Gene: TPI1

Linked Data

• MyVariant Identifiers: chr12:g.6979510A>T (hg19) ; chr12:g.6870346A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870346A>T , CM000674.2:g.6870346A>T	GRCh38
NC_000012.11:g.6979510A>T , CM000674.1:g.6979510A>T	GRCh37
NC_000012.10:g.6849771A>T	NCBI36
NG_011948.1:g.7927A>T
NG_013308.1:g.8012T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.713A>T MANE Select	ENSP00000379933.4:p.Lys238Met
ENST00000229270.8:c.824A>T	ENSP00000229270.4:p.Lys275Met
ENST00000396705.9:c.713A>T	ENSP00000379933.4:p.Lys238Met
ENST00000474253.1:n.202A>T
ENST00000488464.6:c.467A>T	ENSP00000475620.1:p.Lys156Met
ENST00000535434.5:c.467A>T	ENSP00000443599.1:p.Lys156Met
ENST00000613953.4:c.824A>T	ENSP00000484435.1:p.Lys275Met
NM_000365.5:c.713A>T	NP_000356.1:p.Lys238Met
NM_001159287.1:c.824A>T	NP_001152759.1:p.Lys275Met
NM_001258026.1:c.467A>T	NP_001244955.1:p.Lys156Met
XR_002957378.1:n.1721A>T
NM_000365.6:c.713A>T MANE Select	NP_000356.1:p.Lys238Met
NM_001258026.2:c.467A>T	NP_001244955.1:p.Lys156Met