Canonical Allele Identifier: CA339960968

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 3065728
• ClinVar RCV Id: RCV003990805
• MyVariant Identifiers: chr1:g.43396434A>C (hg19) ; chr1:g.42930763A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930763A>C , CM000663.2:g.42930763A>C	GRCh38
NC_000001.10:g.43396434A>C , CM000663.1:g.43396434A>C	GRCh37
NC_000001.9:g.43169021A>C	NCBI36
NG_008232.1:g.33414T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.379T>G MANE Select	ENSP00000416293.2:p.Phe127Val
ENST00000674765.1:c.379T>G	ENSP00000501811.1:p.Phe127Val
ENST00000675112.1:n.402T>G
ENST00000676254.1:n.828T>G
ENST00000372500.4:c.283T>G	ENSP00000361578.4:p.Phe95Val
ENST00000426263.7:c.379T>G	ENSP00000416293.2:p.Phe127Val
ENST00000439722.2:c.258T>G	ENSP00000395521.2:n.258T>G
ENST00000475162.3:c.278T>G
ENST00000625233.2:n.587T>G
ENST00000630287.2:c.379T>G	ENSP00000486694.1:p.Phe127Val
NM_006516.2:c.379T>G	NP_006507.2:p.Phe127Val
NM_006516.3:c.379T>G	NP_006507.2:p.Phe127Val
NM_006516.4:c.379T>G MANE Select	NP_006507.2:p.Phe127Val