Canonical Allele Identifier: CA339960777

Gene: SLC2A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930724C>G , CM000663.2:g.42930724C>G	GRCh38
NC_000001.10:g.43396395C>G , CM000663.1:g.43396395C>G	GRCh37
NC_000001.9:g.43168982C>G	NCBI36
NG_008232.1:g.33453G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.418G>C MANE Select	ENSP00000416293.2:p.Val140Leu
ENST00000674765.1:c.418G>C	ENSP00000501811.1:p.Val140Leu
ENST00000675112.1:n.441G>C
ENST00000676254.1:n.867G>C
ENST00000372500.4:c.322G>C	ENSP00000361578.4:p.Val108Leu
ENST00000426263.7:c.418G>C	ENSP00000416293.2:p.Val140Leu
ENST00000439722.2:c.297G>C	ENSP00000395521.2:n.297G>C
ENST00000475162.3:c.317G>C
ENST00000625233.2:n.626G>C
ENST00000630287.2:c.418G>C	ENSP00000486694.1:p.Val140Leu
NM_006516.2:c.418G>C	NP_006507.2:p.Val140Leu
NM_006516.3:c.418G>C	NP_006507.2:p.Val140Leu
NM_006516.4:c.418G>C MANE Select	NP_006507.2:p.Val140Leu