Canonical Allele Identifier: CA417409451

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930626-C-T
• MyVariant Identifiers: chr1:g.43396297C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930626C>T , CM000663.2:g.42930626C>T	GRCh38
NC_000001.10:g.43396297C>T , CM000663.1:g.43396297C>T	GRCh37
NC_000001.9:g.43168884C>T	NCBI36
NG_008232.1:g.33551G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.516G>A MANE Select	ENSP00000416293.2:p.Gln172=
ENST00000674765.1:c.516G>A	ENSP00000501811.1:p.Gln172=
ENST00000675112.1:n.539G>A
ENST00000676254.1:n.965G>A
ENST00000426263.7:c.516G>A	ENSP00000416293.2:p.Gln172=
ENST00000439722.2:c.395G>A	ENSP00000395521.2:n.395G>A
ENST00000475162.3:c.415G>A
ENST00000625233.2:n.724G>A
ENST00000630287.2:c.516G>A	ENSP00000486694.1:p.Gln172=
NM_006516.2:c.516G>A	NP_006507.2:p.Gln172=
NM_006516.3:c.516G>A	NP_006507.2:p.Gln172=
NM_006516.4:c.516G>A MANE Select	NP_006507.2:p.Gln172=