Canonical Allele Identifier: CA339953964

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1498827
• ClinVar RCV Id: RCV002035639
• dbSNP Id: rs2124446457
• MyVariant Identifiers: chr1:g.43393394G>A (hg19) ; chr1:g.42927723G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927723G>A , CM000663.2:g.42927723G>A	GRCh38
NC_000001.10:g.43393394G>A , CM000663.1:g.43393394G>A	GRCh37
NC_000001.9:g.43165981G>A	NCBI36
NG_008232.1:g.36454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1160C>T MANE Select	ENSP00000416293.2:p.Pro387Leu
ENST00000674545.1:n.1777C>T
ENST00000674765.1:c.1030-866C>T	ENSP00000501811.1:n.1030-866C>T
ENST00000675112.1:n.1461C>T
ENST00000676254.1:n.1609C>T
ENST00000426263.7:c.1160C>T	ENSP00000416293.2:p.Pro387Leu
ENST00000475162.3:c.416-745C>T
ENST00000630287.2:c.*475C>T	ENSP00000486694.1:n.*475C>T
NM_006516.2:c.1160C>T	NP_006507.2:p.Pro387Leu
NM_006516.3:c.1160C>T	NP_006507.2:p.Pro387Leu
NM_006516.4:c.1160C>T MANE Select	NP_006507.2:p.Pro387Leu