Canonical Allele Identifier: CA339957718

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 992655
• ClinVar RCV Id: RCV001281367 ; RCV003128772 ; RCV003446682 ; RCV003446685 ; RCV003446683 ; RCV003446684
• dbSNP Id: rs1302959508
• gnomAD v3: 1-42929673-A-G
• gnomAD v4: 1-42929673-A-G
• MyVariant Identifiers: chr1:g.43395344A>G (hg19) ; chr1:g.42929673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929673A>G , CM000663.2:g.42929673A>G	GRCh38
NC_000001.10:g.43395344A>G , CM000663.1:g.43395344A>G	GRCh37
NC_000001.9:g.43167931A>G	NCBI36
NG_008232.1:g.34504T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.787T>C MANE Select	ENSP00000416293.2:p.Phe263Leu
ENST00000669445.1:c.117T>C
ENST00000674765.1:c.787T>C	ENSP00000501811.1:p.Phe263Leu
ENST00000675112.1:n.810T>C
ENST00000676254.1:n.1236T>C
ENST00000426263.7:c.787T>C	ENSP00000416293.2:p.Phe263Leu
ENST00000439722.2:c.666T>C	ENSP00000395521.2:n.666T>C
ENST00000475162.3:c.415+953T>C
ENST00000630287.2:c.*102T>C	ENSP00000486694.1:n.*102T>C
NM_006516.2:c.787T>C	NP_006507.2:p.Phe263Leu
NM_006516.3:c.787T>C	NP_006507.2:p.Phe263Leu
NM_006516.4:c.787T>C MANE Select	NP_006507.2:p.Phe263Leu