Canonical Allele Identifier: CA417543433
Gene: SLC2A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.43395420C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929749C>T , CM000663.2:g.42929749C>T GRCh38
NC_000001.10:g.43395420C>T , CM000663.1:g.43395420C>T GRCh37
NC_000001.9:g.43168007C>T NCBI36
NG_008232.1:g.34428G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.711G>A MANE Select ENSP00000416293.2:p.Val237=
ENST00000669445.1:c.57-16G>A
ENST00000674765.1:c.711G>A ENSP00000501811.1:p.Val237=
ENST00000675112.1:n.734G>A
ENST00000676254.1:n.1160G>A
ENST00000426263.7:c.711G>A ENSP00000416293.2:p.Val237=
ENST00000439722.2:c.590G>A ENSP00000395521.2:n.590G>A
ENST00000475162.3:c.415+877G>A
ENST00000630287.2:c.*26G>A ENSP00000486694.1:n.*26G>A
NM_006516.2:c.711G>A NP_006507.2:p.Val237=
NM_006516.3:c.711G>A NP_006507.2:p.Val237=
NM_006516.4:c.711G>A MANE Select NP_006507.2:p.Val237=