Canonical Allele Identifier: CA417409481
Gene: SLC2A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.43396303G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930632G>T , CM000663.2:g.42930632G>T GRCh38
NC_000001.10:g.43396303G>T , CM000663.1:g.43396303G>T GRCh37
NC_000001.9:g.43168890G>T NCBI36
NG_008232.1:g.33545C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.510C>A MANE Select ENSP00000416293.2:p.Ile170=
ENST00000674765.1:c.510C>A ENSP00000501811.1:p.Ile170=
ENST00000675112.1:n.533C>A
ENST00000676254.1:n.959C>A
ENST00000426263.7:c.510C>A ENSP00000416293.2:p.Ile170=
ENST00000439722.2:c.389C>A ENSP00000395521.2:n.389C>A
ENST00000475162.3:c.409C>A
ENST00000625233.2:n.718C>A
ENST00000630287.2:c.510C>A ENSP00000486694.1:p.Ile170=
NM_006516.2:c.510C>A NP_006507.2:p.Ile170=
NM_006516.3:c.510C>A NP_006507.2:p.Ile170=
NM_006516.4:c.510C>A MANE Select NP_006507.2:p.Ile170=