Canonical Allele Identifier: CA339958179

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1387242348
• MyVariant Identifiers: chr1:g.43395422C>A (hg19) ; chr1:g.42929751C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929751C>A , CM000663.2:g.42929751C>A	GRCh38
NC_000001.10:g.43395422C>A , CM000663.1:g.43395422C>A	GRCh37
NC_000001.9:g.43168009C>A	NCBI36
NG_008232.1:g.34426G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.709G>T MANE Select	ENSP00000416293.2:p.Val237Leu
ENST00000669445.1:c.57-18G>T
ENST00000674765.1:c.709G>T	ENSP00000501811.1:p.Val237Leu
ENST00000675112.1:n.732G>T
ENST00000676254.1:n.1158G>T
ENST00000426263.7:c.709G>T	ENSP00000416293.2:p.Val237Leu
ENST00000439722.2:c.588G>T	ENSP00000395521.2:n.588G>T
ENST00000475162.3:c.415+875G>T
ENST00000630287.2:c.*24G>T	ENSP00000486694.1:n.*24G>T
NM_006516.2:c.709G>T	NP_006507.2:p.Val237Leu
NM_006516.3:c.709G>T	NP_006507.2:p.Val237Leu
NM_006516.4:c.709G>T MANE Select	NP_006507.2:p.Val237Leu