Canonical Allele Identifier: CA339960781

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396396G>C (hg19) ; chr1:g.42930725G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930725G>C , CM000663.2:g.42930725G>C	GRCh38
NC_000001.10:g.43396396G>C , CM000663.1:g.43396396G>C	GRCh37
NC_000001.9:g.43168983G>C	NCBI36
NG_008232.1:g.33452C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.417C>G MANE Select	ENSP00000416293.2:p.Phe139Leu
ENST00000674765.1:c.417C>G	ENSP00000501811.1:p.Phe139Leu
ENST00000675112.1:n.440C>G
ENST00000676254.1:n.866C>G
ENST00000372500.4:c.321C>G	ENSP00000361578.4:p.Phe107Leu
ENST00000426263.7:c.417C>G	ENSP00000416293.2:p.Phe139Leu
ENST00000439722.2:c.296C>G	ENSP00000395521.2:n.296C>G
ENST00000475162.3:c.316C>G
ENST00000625233.2:n.625C>G
ENST00000630287.2:c.417C>G	ENSP00000486694.1:p.Phe139Leu
NM_006516.2:c.417C>G	NP_006507.2:p.Phe139Leu
NM_006516.3:c.417C>G	NP_006507.2:p.Phe139Leu
NM_006516.4:c.417C>G MANE Select	NP_006507.2:p.Phe139Leu