Canonical Allele Identifier: CA339964781

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43408924G>C (hg19) ; chr1:g.42943253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943253G>C , CM000663.2:g.42943253G>C	GRCh38
NC_000001.10:g.43408924G>C , CM000663.1:g.43408924G>C	GRCh37
NC_000001.9:g.43181511G>C	NCBI36
NG_008232.1:g.20924C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.87C>G MANE Select	ENSP00000416293.2:p.Asn29Lys
ENST00000674765.1:c.87C>G	ENSP00000501811.1:p.Asn29Lys
ENST00000675112.1:n.110C>G
ENST00000372500.4:c.19-12047C>G	ENSP00000361578.4:n.19-12047C>G
ENST00000415851.6:n.304C>G
ENST00000426263.7:c.87C>G	ENSP00000416293.2:p.Asn29Lys
ENST00000625233.2:n.295C>G
ENST00000628173.1:n.306C>G
ENST00000630287.2:c.87C>G	ENSP00000486694.1:p.Asn29Lys
ENST00000630821.1:n.304C>G
NM_006516.2:c.87C>G	NP_006507.2:p.Asn29Lys
NM_006516.3:c.87C>G	NP_006507.2:p.Asn29Lys
NM_006516.4:c.87C>G MANE Select	NP_006507.2:p.Asn29Lys