Canonical Allele Identifier: CA417409199
Gene: SLC2A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.43394977A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929306A>G , CM000663.2:g.42929306A>G GRCh38
NC_000001.10:g.43394977A>G , CM000663.1:g.43394977A>G GRCh37
NC_000001.9:g.43167564A>G NCBI36
NG_008232.1:g.34871T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.876T>C MANE Select ENSP00000416293.2:p.Tyr292=
ENST00000674545.1:n.194T>C
ENST00000674765.1:c.876T>C ENSP00000501811.1:p.Tyr292=
ENST00000675112.1:n.1177T>C
ENST00000676254.1:n.1325T>C
ENST00000426263.7:c.876T>C ENSP00000416293.2:p.Tyr292=
ENST00000439722.2:c.755T>C ENSP00000395521.2:n.755T>C
ENST00000475162.3:c.415+1320T>C
ENST00000630287.2:c.*191T>C ENSP00000486694.1:n.*191T>C
NM_006516.2:c.876T>C NP_006507.2:p.Tyr292=
NM_006516.3:c.876T>C NP_006507.2:p.Tyr292=
NM_006516.4:c.876T>C MANE Select NP_006507.2:p.Tyr292=