Canonical Allele Identifier: CA339960953

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930760-T-C
• MyVariant Identifiers: chr1:g.43396431T>C (hg19) ; chr1:g.42930760T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930760T>C , CM000663.2:g.42930760T>C	GRCh38
NC_000001.10:g.43396431T>C , CM000663.1:g.43396431T>C	GRCh37
NC_000001.9:g.43169018T>C	NCBI36
NG_008232.1:g.33417A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.382A>G MANE Select	ENSP00000416293.2:p.Ile128Val
ENST00000674765.1:c.382A>G	ENSP00000501811.1:p.Ile128Val
ENST00000675112.1:n.405A>G
ENST00000676254.1:n.831A>G
ENST00000372500.4:c.286A>G	ENSP00000361578.4:p.Ile96Val
ENST00000426263.7:c.382A>G	ENSP00000416293.2:p.Ile128Val
ENST00000439722.2:c.261A>G	ENSP00000395521.2:n.261A>G
ENST00000475162.3:c.281A>G
ENST00000625233.2:n.590A>G
ENST00000630287.2:c.382A>G	ENSP00000486694.1:p.Ile128Val
NM_006516.2:c.382A>G	NP_006507.2:p.Ile128Val
NM_006516.3:c.382A>G	NP_006507.2:p.Ile128Val
NM_006516.4:c.382A>G MANE Select	NP_006507.2:p.Ile128Val