Canonical Allele Identifier: CA339960962

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396433A>C (hg19) ; chr1:g.42930762A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930762A>C , CM000663.2:g.42930762A>C	GRCh38
NC_000001.10:g.43396433A>C , CM000663.1:g.43396433A>C	GRCh37
NC_000001.9:g.43169020A>C	NCBI36
NG_008232.1:g.33415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.380T>G MANE Select	ENSP00000416293.2:p.Phe127Cys
ENST00000674765.1:c.380T>G	ENSP00000501811.1:p.Phe127Cys
ENST00000675112.1:n.403T>G
ENST00000676254.1:n.829T>G
ENST00000372500.4:c.284T>G	ENSP00000361578.4:p.Phe95Cys
ENST00000426263.7:c.380T>G	ENSP00000416293.2:p.Phe127Cys
ENST00000439722.2:c.259T>G	ENSP00000395521.2:n.259T>G
ENST00000475162.3:c.279T>G
ENST00000625233.2:n.588T>G
ENST00000630287.2:c.380T>G	ENSP00000486694.1:p.Phe127Cys
NM_006516.2:c.380T>G	NP_006507.2:p.Phe127Cys
NM_006516.3:c.380T>G	NP_006507.2:p.Phe127Cys
NM_006516.4:c.380T>G MANE Select	NP_006507.2:p.Phe127Cys