Canonical Allele Identifier: CA417543824

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930749-C-A
• MyVariant Identifiers: chr1:g.43396420C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930749C>A , CM000663.2:g.42930749C>A	GRCh38
NC_000001.10:g.43396420C>A , CM000663.1:g.43396420C>A	GRCh37
NC_000001.9:g.43169007C>A	NCBI36
NG_008232.1:g.33428G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.393G>T MANE Select	ENSP00000416293.2:p.Val131=
ENST00000674765.1:c.393G>T	ENSP00000501811.1:p.Val131=
ENST00000675112.1:n.416G>T
ENST00000676254.1:n.842G>T
ENST00000372500.4:c.297G>T	ENSP00000361578.4:p.Val99=
ENST00000426263.7:c.393G>T	ENSP00000416293.2:p.Val131=
ENST00000439722.2:c.272G>T	ENSP00000395521.2:n.272G>T
ENST00000475162.3:c.292G>T
ENST00000625233.2:n.601G>T
ENST00000630287.2:c.393G>T	ENSP00000486694.1:p.Val131=
NM_006516.2:c.393G>T	NP_006507.2:p.Val131=
NM_006516.3:c.393G>T	NP_006507.2:p.Val131=
NM_006516.4:c.393G>T MANE Select	NP_006507.2:p.Val131=