Canonical Allele Identifier: CA803401
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383605
ClinVar RCV Id: RCV002519561 RCV003446001 RCV003446003 RCV001712243 RCV003446000 RCV003446002 RCV003446004
dbSNP Id: rs780528770
ExAC: 1:43394908 G / A
gnomAD v2: 1-43394908-G-A
gnomAD v4: 1-42929237-G-A
MyVariant Identifiers: chr1:g.43394908G>A (hg19) chr1:g.42929237G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929237G>A , CM000663.2:g.42929237G>A GRCh38
NC_000001.10:g.43394908G>A , CM000663.1:g.43394908G>A GRCh37
NC_000001.9:g.43167495G>A NCBI36
NG_008232.1:g.34940C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.945C>T MANE Select ENSP00000416293.2:p.Ile315=
ENST00000674545.1:n.263C>T
ENST00000674765.1:c.945C>T ENSP00000501811.1:p.Ile315=
ENST00000675112.1:n.1246C>T
ENST00000676254.1:n.1394C>T
ENST00000426263.7:c.945C>T ENSP00000416293.2:p.Ile315=
ENST00000439722.2:c.824C>T ENSP00000395521.2:n.824C>T
ENST00000475162.3:c.415+1389C>T
ENST00000630287.2:c.*260C>T ENSP00000486694.1:n.*260C>T
NM_006516.2:c.945C>T NP_006507.2:p.Ile315=
NM_006516.3:c.945C>T NP_006507.2:p.Ile315=
NM_006516.4:c.945C>T MANE Select NP_006507.2:p.Ile315=
Search 100 bp 5'
Search 100 bp 3'