Canonical Allele Identifier: CA339952336

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 871442
• ClinVar RCV Id: RCV001091410 ; RCV001862694 ; RCV003446617
• dbSNP Id: rs1159593580
• gnomAD v3: 1-42927066-G-A
• gnomAD v4: 1-42927066-G-A
• MyVariant Identifiers: chr1:g.43392737G>A (hg19) ; chr1:g.42927066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927066G>A , CM000663.2:g.42927066G>A	GRCh38
NC_000001.10:g.43392737G>A , CM000663.1:g.43392737G>A	GRCh37
NC_000001.9:g.43165324G>A	NCBI36
NG_008232.1:g.37111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1454C>T MANE Select	ENSP00000416293.2:p.Pro485Leu
ENST00000674545.1:n.2071C>T
ENST00000674765.1:c.1030-209C>T	ENSP00000501811.1:n.1030-209C>T
ENST00000675112.1:n.1755C>T
ENST00000676254.1:n.1903C>T
ENST00000426263.7:c.1454C>T	ENSP00000416293.2:p.Pro485Leu
ENST00000475162.3:c.416-88C>T
ENST00000630287.2:c.*769C>T	ENSP00000486694.1:n.*769C>T
NM_006516.2:c.1454C>T	NP_006507.2:p.Pro485Leu
NM_006516.3:c.1454C>T	NP_006507.2:p.Pro485Leu
NM_006516.4:c.1454C>T MANE Select	NP_006507.2:p.Pro485Leu