Canonical Allele Identifier: CA339955482

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42928936-A-C
• MyVariant Identifiers: chr1:g.43394607A>C (hg19) ; chr1:g.42928936A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928936A>C , CM000663.2:g.42928936A>C	GRCh38
NC_000001.10:g.43394607A>C , CM000663.1:g.43394607A>C	GRCh37
NC_000001.9:g.43167194A>C	NCBI36
NG_008232.1:g.35241T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1070T>G MANE Select	ENSP00000416293.2:p.Leu357Arg
ENST00000674545.1:n.564T>G
ENST00000674765.1:c.1029+41T>G	ENSP00000501811.1:n.1029+41T>G
ENST00000675112.1:n.1371T>G
ENST00000676254.1:n.1519T>G
ENST00000426263.7:c.1070T>G	ENSP00000416293.2:p.Leu357Arg
ENST00000475162.3:c.415+1690T>G
ENST00000630287.2:c.*385T>G	ENSP00000486694.1:n.*385T>G
NM_006516.2:c.1070T>G	NP_006507.2:p.Leu357Arg
NM_006516.3:c.1070T>G	NP_006507.2:p.Leu357Arg
NM_006516.4:c.1070T>G MANE Select	NP_006507.2:p.Leu357Arg