Canonical Allele Identifier: CA339957892

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929697-T-C
• MyVariant Identifiers: chr1:g.43395368T>C (hg19) ; chr1:g.42929697T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929697T>C , CM000663.2:g.42929697T>C	GRCh38
NC_000001.10:g.43395368T>C , CM000663.1:g.43395368T>C	GRCh37
NC_000001.9:g.43167955T>C	NCBI36
NG_008232.1:g.34480A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.763A>G MANE Select	ENSP00000416293.2:p.Lys255Glu
ENST00000669445.1:c.93A>G
ENST00000674765.1:c.763A>G	ENSP00000501811.1:p.Lys255Glu
ENST00000675112.1:n.786A>G
ENST00000676254.1:n.1212A>G
ENST00000426263.7:c.763A>G	ENSP00000416293.2:p.Lys255Glu
ENST00000439722.2:c.642A>G	ENSP00000395521.2:n.642A>G
ENST00000475162.3:c.415+929A>G
ENST00000630287.2:c.*78A>G	ENSP00000486694.1:n.*78A>G
NM_006516.2:c.763A>G	NP_006507.2:p.Lys255Glu
NM_006516.3:c.763A>G	NP_006507.2:p.Lys255Glu
NM_006516.4:c.763A>G MANE Select	NP_006507.2:p.Lys255Glu