Canonical Allele Identifier: CA339954299

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1227537819
• gnomAD v2: 1-43393448-A-T
• gnomAD v4: 1-42927777-A-T
• MyVariant Identifiers: chr1:g.43393448A>T (hg19) ; chr1:g.42927777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927777A>T , CM000663.2:g.42927777A>T	GRCh38
NC_000001.10:g.43393448A>T , CM000663.1:g.43393448A>T	GRCh37
NC_000001.9:g.43166035A>T	NCBI36
NG_008232.1:g.36400T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1106T>A MANE Select	ENSP00000416293.2:p.Ile369Asn
ENST00000674545.1:n.1723T>A
ENST00000674765.1:c.1030-920T>A	ENSP00000501811.1:n.1030-920T>A
ENST00000675112.1:n.1407T>A
ENST00000676254.1:n.1555T>A
ENST00000426263.7:c.1106T>A	ENSP00000416293.2:p.Ile369Asn
ENST00000475162.3:c.416-799T>A
ENST00000630287.2:c.*421T>A	ENSP00000486694.1:n.*421T>A
NM_006516.2:c.1106T>A	NP_006507.2:p.Ile369Asn
NM_006516.3:c.1106T>A	NP_006507.2:p.Ile369Asn
NM_006516.4:c.1106T>A MANE Select	NP_006507.2:p.Ile369Asn