Canonical Allele Identifier: CA339961331

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1451513110
• gnomAD v2: 1-43396509-G-C
• gnomAD v4: 1-42930838-G-C
• MyVariant Identifiers: chr1:g.43396509G>C (hg19) ; chr1:g.42930838G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930838G>C , CM000663.2:g.42930838G>C	GRCh38
NC_000001.10:g.43396509G>C , CM000663.1:g.43396509G>C	GRCh37
NC_000001.9:g.43169096G>C	NCBI36
NG_008232.1:g.33339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.304C>G MANE Select	ENSP00000416293.2:p.Leu102Val
ENST00000674765.1:c.304C>G	ENSP00000501811.1:p.Leu102Val
ENST00000675112.1:n.327C>G
ENST00000676254.1:n.753C>G
ENST00000372500.4:c.208C>G	ENSP00000361578.4:p.Leu70Val
ENST00000426263.7:c.304C>G	ENSP00000416293.2:p.Leu102Val
ENST00000439722.2:c.183C>G	ENSP00000395521.2:n.183C>G
ENST00000475162.3:c.203C>G
ENST00000625233.2:n.512C>G
ENST00000630287.2:c.304C>G	ENSP00000486694.1:p.Leu102Val
NM_006516.2:c.304C>G	NP_006507.2:p.Leu102Val
NM_006516.3:c.304C>G	NP_006507.2:p.Leu102Val
NM_006516.4:c.304C>G MANE Select	NP_006507.2:p.Leu102Val