Canonical Allele Identifier: CA339953649
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2015012
ClinVar RCV Id: RCV002839231
MyVariant Identifiers: chr1:g.43393296T>C (hg19) chr1:g.42927625T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927625T>C , CM000663.2:g.42927625T>C GRCh38
NC_000001.10:g.43393296T>C , CM000663.1:g.43393296T>C GRCh37
NC_000001.9:g.43165883T>C NCBI36
NG_008232.1:g.36552A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1258A>G MANE Select ENSP00000416293.2:p.Met420Val
ENST00000674545.1:n.1875A>G
ENST00000674765.1:c.1030-768A>G ENSP00000501811.1:n.1030-768A>G
ENST00000675112.1:n.1559A>G
ENST00000676254.1:n.1707A>G
ENST00000426263.7:c.1258A>G ENSP00000416293.2:p.Met420Val
ENST00000475162.3:c.416-647A>G
ENST00000630287.2:c.*573A>G ENSP00000486694.1:n.*573A>G
NM_006516.2:c.1258A>G NP_006507.2:p.Met420Val
NM_006516.3:c.1258A>G NP_006507.2:p.Met420Val
NM_006516.4:c.1258A>G MANE Select NP_006507.2:p.Met420Val
Search 100 bp 5'
Search 100 bp 3'