Canonical Allele Identifier: CA339953904

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1570590940
• MyVariant Identifiers: chr1:g.43393375T>G (hg19) ; chr1:g.42927704T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927704T>G , CM000663.2:g.42927704T>G	GRCh38
NC_000001.10:g.43393375T>G , CM000663.1:g.43393375T>G	GRCh37
NC_000001.9:g.43165962T>G	NCBI36
NG_008232.1:g.36473A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1179A>C MANE Select	ENSP00000416293.2:p.Glu393Asp
ENST00000674545.1:n.1796A>C
ENST00000674765.1:c.1030-847A>C	ENSP00000501811.1:n.1030-847A>C
ENST00000675112.1:n.1480A>C
ENST00000676254.1:n.1628A>C
ENST00000426263.7:c.1179A>C	ENSP00000416293.2:p.Glu393Asp
ENST00000475162.3:c.416-726A>C
ENST00000630287.2:c.*494A>C	ENSP00000486694.1:n.*494A>C
NM_006516.2:c.1179A>C	NP_006507.2:p.Glu393Asp
NM_006516.3:c.1179A>C	NP_006507.2:p.Glu393Asp
NM_006516.4:c.1179A>C MANE Select	NP_006507.2:p.Glu393Asp