Canonical Allele Identifier: CA339964893

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43408977G>C (hg19) ; chr1:g.42943306G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943306G>C , CM000663.2:g.42943306G>C	GRCh38
NC_000001.10:g.43408977G>C , CM000663.1:g.43408977G>C	GRCh37
NC_000001.9:g.43181564G>C	NCBI36
NG_008232.1:g.20871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.34C>G MANE Select	ENSP00000416293.2:p.Leu12Val
ENST00000674765.1:c.34C>G	ENSP00000501811.1:p.Leu12Val
ENST00000675112.1:n.57C>G
ENST00000372500.4:c.19-12100C>G	ENSP00000361578.4:n.19-12100C>G
ENST00000415851.6:n.251C>G
ENST00000426263.7:c.34C>G	ENSP00000416293.2:p.Leu12Val
ENST00000625233.2:n.242C>G
ENST00000628173.1:n.253C>G
ENST00000630287.2:c.34C>G	ENSP00000486694.1:p.Leu12Val
ENST00000630821.1:n.251C>G
NM_006516.2:c.34C>G	NP_006507.2:p.Leu12Val
NM_006516.3:c.34C>G	NP_006507.2:p.Leu12Val
NM_006516.4:c.34C>G MANE Select	NP_006507.2:p.Leu12Val