Canonical Allele Identifier: CA16603718
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381541
ClinVar RCV Id: RCV000432773 RCV002274028 RCV002524897 RCV003445994
dbSNP Id: rs1057521066
MyVariant Identifiers: chr1:g.43395287G>A (hg19) chr1:g.42929616G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929616G>A , CM000663.2:g.42929616G>A GRCh38
NC_000001.10:g.43395287G>A , CM000663.1:g.43395287G>A GRCh37
NC_000001.9:g.43167874G>A NCBI36
NG_008232.1:g.34561C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.844C>T MANE Select ENSP00000416293.2:p.Gln282Ter
ENST00000674765.1:c.844C>T ENSP00000501811.1:p.Gln282Ter
ENST00000675112.1:n.867C>T
ENST00000676254.1:n.1293C>T
ENST00000426263.7:c.844C>T ENSP00000416293.2:p.Gln282Ter
ENST00000439722.2:c.723C>T ENSP00000395521.2:n.723C>T
ENST00000475162.3:c.415+1010C>T
ENST00000630287.2:c.*159C>T ENSP00000486694.1:n.*159C>T
NM_006516.2:c.844C>T NP_006507.2:p.Gln282Ter
NM_006516.3:c.844C>T NP_006507.2:p.Gln282Ter
NM_006516.4:c.844C>T MANE Select NP_006507.2:p.Gln282Ter
Search 100 bp 5'
Search 100 bp 3'