Canonical Allele Identifier: CA339954068

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393413C>G (hg19) ; chr1:g.42927742C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927742C>G , CM000663.2:g.42927742C>G	GRCh38
NC_000001.10:g.43393413C>G , CM000663.1:g.43393413C>G	GRCh37
NC_000001.9:g.43166000C>G	NCBI36
NG_008232.1:g.36435G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1141G>C MANE Select	ENSP00000416293.2:p.Val381Leu
ENST00000674545.1:n.1758G>C
ENST00000674765.1:c.1030-885G>C	ENSP00000501811.1:n.1030-885G>C
ENST00000675112.1:n.1442G>C
ENST00000676254.1:n.1590G>C
ENST00000426263.7:c.1141G>C	ENSP00000416293.2:p.Val381Leu
ENST00000475162.3:c.416-764G>C
ENST00000630287.2:c.*456G>C	ENSP00000486694.1:n.*456G>C
NM_006516.2:c.1141G>C	NP_006507.2:p.Val381Leu
NM_006516.3:c.1141G>C	NP_006507.2:p.Val381Leu
NM_006516.4:c.1141G>C MANE Select	NP_006507.2:p.Val381Leu