Canonical Allele Identifier: CA339958679

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395654A>C (hg19) ; chr1:g.42929983A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929983A>C , CM000663.2:g.42929983A>C	GRCh38
NC_000001.10:g.43395654A>C , CM000663.1:g.43395654A>C	GRCh37
NC_000001.9:g.43168241A>C	NCBI36
NG_008232.1:g.34194T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.569T>G MANE Select	ENSP00000416293.2:p.Leu190Arg
ENST00000674765.1:c.569T>G	ENSP00000501811.1:p.Leu190Arg
ENST00000675112.1:n.592T>G
ENST00000676254.1:n.1018T>G
ENST00000426263.7:c.569T>G	ENSP00000416293.2:p.Leu190Arg
ENST00000439722.2:c.448T>G	ENSP00000395521.2:n.448T>G
ENST00000475162.3:c.415+643T>G
ENST00000630287.2:c.517-203T>G	ENSP00000486694.1:n.517-203T>G
NM_006516.2:c.569T>G	NP_006507.2:p.Leu190Arg
NM_006516.3:c.569T>G	NP_006507.2:p.Leu190Arg
NM_006516.4:c.569T>G MANE Select	NP_006507.2:p.Leu190Arg