Canonical Allele Identifier: CA417409731

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1309817090
• gnomAD v2: 1-43396357-A-C
• gnomAD v4: 1-42930686-A-C
• MyVariant Identifiers: chr1:g.43396357A>C (hg19) ; chr1:g.42930686A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930686A>C , CM000663.2:g.42930686A>C	GRCh38
NC_000001.10:g.43396357A>C , CM000663.1:g.43396357A>C	GRCh37
NC_000001.9:g.43168944A>C	NCBI36
NG_008232.1:g.33491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.456T>G MANE Select	ENSP00000416293.2:p.Leu152=
ENST00000674765.1:c.456T>G	ENSP00000501811.1:p.Leu152=
ENST00000675112.1:n.479T>G
ENST00000676254.1:n.905T>G
ENST00000426263.7:c.456T>G	ENSP00000416293.2:p.Leu152=
ENST00000439722.2:c.335T>G	ENSP00000395521.2:n.335T>G
ENST00000475162.3:c.355T>G
ENST00000625233.2:n.664T>G
ENST00000630287.2:c.456T>G	ENSP00000486694.1:p.Leu152=
NM_006516.2:c.456T>G	NP_006507.2:p.Leu152=
NM_006516.3:c.456T>G	NP_006507.2:p.Leu152=
NM_006516.4:c.456T>G MANE Select	NP_006507.2:p.Leu152=