Canonical Allele Identifier: CA383714176

Gene: TPI1

Linked Data

• MyVariant Identifiers: chr12:g.6979522T>C (hg19) ; chr12:g.6870358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870358T>C , CM000674.2:g.6870358T>C	GRCh38
NC_000012.11:g.6979522T>C , CM000674.1:g.6979522T>C	GRCh37
NC_000012.10:g.6849783T>C	NCBI36
NG_011948.1:g.7939T>C
NG_013308.1:g.8000A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.725T>C MANE Select	ENSP00000379933.4:p.Val242Ala
ENST00000229270.8:c.836T>C	ENSP00000229270.4:p.Val279Ala
ENST00000396705.9:c.725T>C	ENSP00000379933.4:p.Val242Ala
ENST00000474253.1:n.214T>C
ENST00000488464.6:c.479T>C	ENSP00000475620.1:p.Val160Ala
ENST00000535434.5:c.479T>C	ENSP00000443599.1:p.Val160Ala
ENST00000613953.4:c.836T>C	ENSP00000484435.1:p.Val279Ala
NM_000365.5:c.725T>C	NP_000356.1:p.Val242Ala
NM_001159287.1:c.836T>C	NP_001152759.1:p.Val279Ala
NM_001258026.1:c.479T>C	NP_001244955.1:p.Val160Ala
XR_002957378.1:n.1733T>C
NM_000365.6:c.725T>C MANE Select	NP_000356.1:p.Val242Ala
NM_001258026.2:c.479T>C	NP_001244955.1:p.Val160Ala