Canonical Allele Identifier: CA339957930

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929704-C-T
• MyVariant Identifiers: chr1:g.43395375C>T (hg19) ; chr1:g.42929704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929704C>T , CM000663.2:g.42929704C>T	GRCh38
NC_000001.10:g.43395375C>T , CM000663.1:g.43395375C>T	GRCh37
NC_000001.9:g.43167962C>T	NCBI36
NG_008232.1:g.34473G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.756G>A MANE Select	ENSP00000416293.2:p.Met252Ile
ENST00000669445.1:c.86G>A
ENST00000674765.1:c.756G>A	ENSP00000501811.1:p.Met252Ile
ENST00000675112.1:n.779G>A
ENST00000676254.1:n.1205G>A
ENST00000426263.7:c.756G>A	ENSP00000416293.2:p.Met252Ile
ENST00000439722.2:c.635G>A	ENSP00000395521.2:n.635G>A
ENST00000475162.3:c.415+922G>A
ENST00000630287.2:c.*71G>A	ENSP00000486694.1:n.*71G>A
NM_006516.2:c.756G>A	NP_006507.2:p.Met252Ile
NM_006516.3:c.756G>A	NP_006507.2:p.Met252Ile
NM_006516.4:c.756G>A MANE Select	NP_006507.2:p.Met252Ile