Canonical Allele Identifier: CA803357

Gene: SLC2A1

Linked Data

• dbSNP Id: rs752294533
• ExAC: 1:43394606 C / T
• gnomAD v2: 1-43394606-C-T
• gnomAD v4: 1-42928935-C-T
• MyVariant Identifiers: chr1:g.43394606C>T (hg19) ; chr1:g.42928935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928935C>T , CM000663.2:g.42928935C>T	GRCh38
NC_000001.10:g.43394606C>T , CM000663.1:g.43394606C>T	GRCh37
NC_000001.9:g.43167193C>T	NCBI36
NG_008232.1:g.35242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1071G>A MANE Select	ENSP00000416293.2:p.Leu357=
ENST00000674545.1:n.565G>A
ENST00000674765.1:c.1029+42G>A	ENSP00000501811.1:n.1029+42G>A
ENST00000675112.1:n.1372G>A
ENST00000676254.1:n.1520G>A
ENST00000426263.7:c.1071G>A	ENSP00000416293.2:p.Leu357=
ENST00000475162.3:c.415+1691G>A
ENST00000630287.2:c.*386G>A	ENSP00000486694.1:n.*386G>A
NM_006516.2:c.1071G>A	NP_006507.2:p.Leu357=
NM_006516.3:c.1071G>A	NP_006507.2:p.Leu357=
NM_006516.4:c.1071G>A MANE Select	NP_006507.2:p.Leu357=