Canonical Allele Identifier: CA383712808

Gene: TPI1

Linked Data

• MyVariant Identifiers: chr12:g.6979230G>C (hg19) ; chr12:g.6870066G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870066G>C , CM000674.2:g.6870066G>C	GRCh38
NC_000012.11:g.6979230G>C , CM000674.1:g.6979230G>C	GRCh37
NC_000012.10:g.6849491G>C	NCBI36
NG_011948.1:g.7647G>C
NG_013308.1:g.8292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.561G>C MANE Select	ENSP00000379933.4:p.Glu187Asp
ENST00000229270.8:c.672G>C	ENSP00000229270.4:p.Glu224Asp
ENST00000396705.9:c.561G>C	ENSP00000379933.4:p.Glu187Asp
ENST00000474253.1:n.50G>C
ENST00000482209.1:n.257G>C
ENST00000488464.6:c.315G>C	ENSP00000475620.1:p.Glu105Asp
ENST00000493987.5:c.315G>C	ENSP00000475364.1:p.Glu105Asp
ENST00000535434.5:c.315G>C	ENSP00000443599.1:p.Glu105Asp
ENST00000613953.4:c.672G>C	ENSP00000484435.1:p.Glu224Asp
NM_000365.5:c.561G>C	NP_000356.1:p.Glu187Asp
NM_001159287.1:c.672G>C	NP_001152759.1:p.Glu224Asp
NM_001258026.1:c.315G>C	NP_001244955.1:p.Glu105Asp
XR_002957378.1:n.1569G>C
NM_000365.6:c.561G>C MANE Select	NP_000356.1:p.Glu187Asp
NM_001258026.2:c.315G>C	NP_001244955.1:p.Glu105Asp