Canonical Allele Identifier: CA417543730

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396372C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930701C>G , CM000663.2:g.42930701C>G	GRCh38
NC_000001.10:g.43396372C>G , CM000663.1:g.43396372C>G	GRCh37
NC_000001.9:g.43168959C>G	NCBI36
NG_008232.1:g.33476G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.441G>C MANE Select	ENSP00000416293.2:p.Val147=
ENST00000674765.1:c.441G>C	ENSP00000501811.1:p.Val147=
ENST00000675112.1:n.464G>C
ENST00000676254.1:n.890G>C
ENST00000372500.4:c.345G>C	ENSP00000361578.4:p.Val115=
ENST00000426263.7:c.441G>C	ENSP00000416293.2:p.Val147=
ENST00000439722.2:c.320G>C	ENSP00000395521.2:n.320G>C
ENST00000475162.3:c.340G>C
ENST00000625233.2:n.649G>C
ENST00000630287.2:c.441G>C	ENSP00000486694.1:p.Val147=
NM_006516.2:c.441G>C	NP_006507.2:p.Val147=
NM_006516.3:c.441G>C	NP_006507.2:p.Val147=
NM_006516.4:c.441G>C MANE Select	NP_006507.2:p.Val147=