Canonical Allele Identifier: CA417543894

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396447C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930776C>G , CM000663.2:g.42930776C>G	GRCh38
NC_000001.10:g.43396447C>G , CM000663.1:g.43396447C>G	GRCh37
NC_000001.9:g.43169034C>G	NCBI36
NG_008232.1:g.33401G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.366G>C MANE Select	ENSP00000416293.2:p.Leu122=
ENST00000674765.1:c.366G>C	ENSP00000501811.1:p.Leu122=
ENST00000675112.1:n.389G>C
ENST00000676254.1:n.815G>C
ENST00000372500.4:c.270G>C	ENSP00000361578.4:p.Leu90=
ENST00000426263.7:c.366G>C	ENSP00000416293.2:p.Leu122=
ENST00000439722.2:c.245G>C	ENSP00000395521.2:n.245G>C
ENST00000475162.3:c.265G>C
ENST00000625233.2:n.574G>C
ENST00000630287.2:c.366G>C	ENSP00000486694.1:p.Leu122=
NM_006516.2:c.366G>C	NP_006507.2:p.Leu122=
NM_006516.3:c.366G>C	NP_006507.2:p.Leu122=
NM_006516.4:c.366G>C MANE Select	NP_006507.2:p.Leu122=