Canonical Allele Identifier: CA339957665

Gene: SLC2A1

Linked Data

• dbSNP Id: rs758919432
• MyVariant Identifiers: chr1:g.43395340C>A (hg19) ; chr1:g.42929669C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929669C>A , CM000663.2:g.42929669C>A	GRCh38
NC_000001.10:g.43395340C>A , CM000663.1:g.43395340C>A	GRCh37
NC_000001.9:g.43167927C>A	NCBI36
NG_008232.1:g.34508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.791G>T MANE Select	ENSP00000416293.2:p.Arg264Leu
ENST00000669445.1:c.121G>T
ENST00000674765.1:c.791G>T	ENSP00000501811.1:p.Arg264Leu
ENST00000675112.1:n.814G>T
ENST00000676254.1:n.1240G>T
ENST00000426263.7:c.791G>T	ENSP00000416293.2:p.Arg264Leu
ENST00000439722.2:c.670G>T	ENSP00000395521.2:n.670G>T
ENST00000475162.3:c.415+957G>T
ENST00000630287.2:c.*106G>T	ENSP00000486694.1:n.*106G>T
NM_006516.2:c.791G>T	NP_006507.2:p.Arg264Leu
NM_006516.3:c.791G>T	NP_006507.2:p.Arg264Leu
NM_006516.4:c.791G>T MANE Select	NP_006507.2:p.Arg264Leu