Canonical Allele Identifier: CA339955499
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42928937-G-C
MyVariant Identifiers: chr1:g.43394608G>C (hg19) chr1:g.42928937G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42928937G>C , CM000663.2:g.42928937G>C GRCh38
NC_000001.10:g.43394608G>C , CM000663.1:g.43394608G>C GRCh37
NC_000001.9:g.43167195G>C NCBI36
NG_008232.1:g.35240C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1069C>G MANE Select ENSP00000416293.2:p.Leu357Val
ENST00000674545.1:n.563C>G
ENST00000674765.1:c.1029+40C>G ENSP00000501811.1:n.1029+40C>G
ENST00000675112.1:n.1370C>G
ENST00000676254.1:n.1518C>G
ENST00000426263.7:c.1069C>G ENSP00000416293.2:p.Leu357Val
ENST00000475162.3:c.415+1689C>G
ENST00000630287.2:c.*384C>G ENSP00000486694.1:n.*384C>G
NM_006516.2:c.1069C>G NP_006507.2:p.Leu357Val
NM_006516.3:c.1069C>G NP_006507.2:p.Leu357Val
NM_006516.4:c.1069C>G MANE Select NP_006507.2:p.Leu357Val
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