Canonical Allele Identifier: CA339956273

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394882G>C (hg19) ; chr1:g.42929211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929211G>C , CM000663.2:g.42929211G>C	GRCh38
NC_000001.10:g.43394882G>C , CM000663.1:g.43394882G>C	GRCh37
NC_000001.9:g.43167469G>C	NCBI36
NG_008232.1:g.34966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.971C>G MANE Select	ENSP00000416293.2:p.Ser324Trp
ENST00000674545.1:n.289C>G
ENST00000674765.1:c.971C>G	ENSP00000501811.1:p.Ser324Trp
ENST00000675112.1:n.1272C>G
ENST00000676254.1:n.1420C>G
ENST00000426263.7:c.971C>G	ENSP00000416293.2:p.Ser324Trp
ENST00000439722.2:c.850C>G	ENSP00000395521.2:n.850C>G
ENST00000475162.3:c.415+1415C>G
ENST00000630287.2:c.*286C>G	ENSP00000486694.1:n.*286C>G
NM_006516.2:c.971C>G	NP_006507.2:p.Ser324Trp
NM_006516.3:c.971C>G	NP_006507.2:p.Ser324Trp
NM_006516.4:c.971C>G MANE Select	NP_006507.2:p.Ser324Trp