Canonical Allele Identifier: CA339961187

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930808-A-C
• MyVariant Identifiers: chr1:g.43396479A>C (hg19) ; chr1:g.42930808A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930808A>C , CM000663.2:g.42930808A>C	GRCh38
NC_000001.10:g.43396479A>C , CM000663.1:g.43396479A>C	GRCh37
NC_000001.9:g.43169066A>C	NCBI36
NG_008232.1:g.33369T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.334T>G MANE Select	ENSP00000416293.2:p.Phe112Val
ENST00000674765.1:c.334T>G	ENSP00000501811.1:p.Phe112Val
ENST00000675112.1:n.357T>G
ENST00000676254.1:n.783T>G
ENST00000372500.4:c.238T>G	ENSP00000361578.4:p.Phe80Val
ENST00000426263.7:c.334T>G	ENSP00000416293.2:p.Phe112Val
ENST00000439722.2:c.213T>G	ENSP00000395521.2:n.213T>G
ENST00000475162.3:c.233T>G
ENST00000625233.2:n.542T>G
ENST00000630287.2:c.334T>G	ENSP00000486694.1:p.Phe112Val
NM_006516.2:c.334T>G	NP_006507.2:p.Phe112Val
NM_006516.3:c.334T>G	NP_006507.2:p.Phe112Val
NM_006516.4:c.334T>G MANE Select	NP_006507.2:p.Phe112Val