Canonical Allele Identifier: CA417407546

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2865250
• ClinVar RCV Id: RCV003632260
• gnomAD v4: 1-42927782-C-A
• MyVariant Identifiers: chr1:g.43393453C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927782C>A , CM000663.2:g.42927782C>A	GRCh38
NC_000001.10:g.43393453C>A , CM000663.1:g.43393453C>A	GRCh37
NC_000001.9:g.43166040C>A	NCBI36
NG_008232.1:g.36395G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1101G>T MANE Select	ENSP00000416293.2:p.Leu367=
ENST00000674545.1:n.1718G>T
ENST00000674765.1:c.1030-925G>T	ENSP00000501811.1:n.1030-925G>T
ENST00000675112.1:n.1402G>T
ENST00000676254.1:n.1550G>T
ENST00000426263.7:c.1101G>T	ENSP00000416293.2:p.Leu367=
ENST00000475162.3:c.416-804G>T
ENST00000630287.2:c.*416G>T	ENSP00000486694.1:n.*416G>T
NM_006516.2:c.1101G>T	NP_006507.2:p.Leu367=
NM_006516.3:c.1101G>T	NP_006507.2:p.Leu367=
NM_006516.4:c.1101G>T MANE Select	NP_006507.2:p.Leu367=