Canonical Allele Identifier: CA339953976

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2702186
• ClinVar RCV Id: RCV003517990
• MyVariant Identifiers: chr1:g.43393396G>C (hg19) ; chr1:g.42927725G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927725G>C , CM000663.2:g.42927725G>C	GRCh38
NC_000001.10:g.43393396G>C , CM000663.1:g.43393396G>C	GRCh37
NC_000001.9:g.43165983G>C	NCBI36
NG_008232.1:g.36452C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1158C>G MANE Select	ENSP00000416293.2:p.Ile386Met
ENST00000674545.1:n.1775C>G
ENST00000674765.1:c.1030-868C>G	ENSP00000501811.1:n.1030-868C>G
ENST00000675112.1:n.1459C>G
ENST00000676254.1:n.1607C>G
ENST00000426263.7:c.1158C>G	ENSP00000416293.2:p.Ile386Met
ENST00000475162.3:c.416-747C>G
ENST00000630287.2:c.*473C>G	ENSP00000486694.1:n.*473C>G
NM_006516.2:c.1158C>G	NP_006507.2:p.Ile386Met
NM_006516.3:c.1158C>G	NP_006507.2:p.Ile386Met
NM_006516.4:c.1158C>G MANE Select	NP_006507.2:p.Ile386Met