Canonical Allele Identifier: CA417543494

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643470878
• gnomAD v4: 1-42929982-C-T
• MyVariant Identifiers: chr1:g.43395653C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929982C>T , CM000663.2:g.42929982C>T	GRCh38
NC_000001.10:g.43395653C>T , CM000663.1:g.43395653C>T	GRCh37
NC_000001.9:g.43168240C>T	NCBI36
NG_008232.1:g.34195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.570G>A MANE Select	ENSP00000416293.2:p.Leu190=
ENST00000674765.1:c.570G>A	ENSP00000501811.1:p.Leu190=
ENST00000675112.1:n.593G>A
ENST00000676254.1:n.1019G>A
ENST00000426263.7:c.570G>A	ENSP00000416293.2:p.Leu190=
ENST00000439722.2:c.449G>A	ENSP00000395521.2:n.449G>A
ENST00000475162.3:c.415+644G>A
ENST00000630287.2:c.517-202G>A	ENSP00000486694.1:n.517-202G>A
NM_006516.2:c.570G>A	NP_006507.2:p.Leu190=
NM_006516.3:c.570G>A	NP_006507.2:p.Leu190=
NM_006516.4:c.570G>A MANE Select	NP_006507.2:p.Leu190=