Canonical Allele Identifier: CA339955529
Gene: SLC2A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.43394614G>C (hg19) chr1:g.42928943G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42928943G>C , CM000663.2:g.42928943G>C GRCh38
NC_000001.10:g.43394614G>C , CM000663.1:g.43394614G>C GRCh37
NC_000001.9:g.43167201G>C NCBI36
NG_008232.1:g.35234C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1063C>G MANE Select ENSP00000416293.2:p.Leu355Val
ENST00000674545.1:n.557C>G
ENST00000674765.1:c.1029+34C>G ENSP00000501811.1:n.1029+34C>G
ENST00000675112.1:n.1364C>G
ENST00000676254.1:n.1512C>G
ENST00000426263.7:c.1063C>G ENSP00000416293.2:p.Leu355Val
ENST00000475162.3:c.415+1683C>G
ENST00000630287.2:c.*378C>G ENSP00000486694.1:n.*378C>G
NM_006516.2:c.1063C>G NP_006507.2:p.Leu355Val
NM_006516.3:c.1063C>G NP_006507.2:p.Leu355Val
NM_006516.4:c.1063C>G MANE Select NP_006507.2:p.Leu355Val
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