Canonical Allele Identifier: CA318427
Gene: SLC2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42930754C>G
GRCh37 chr1:g.43396425C>G
Revel Score:
ENST00000426263 (MANE Select) 0.944
ENST00000372501 0.944
ENST00000439722 0.944
ENST00000372500 0.944
ClinVar RCV:
RCV000189352
ClinVar Variation:
207190
dbSNP:
80359819
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930754C>G , CM000663.2:g.42930754C>G GRCh38
NC_000001.10:g.43396425C>G , CM000663.1:g.43396425C>G GRCh37
NC_000001.9:g.43169012C>G NCBI36
NG_008232.1:g.33423G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.388G>C MANE Select ENSP00000416293.2:p.Gly130Arg
ENST00000674765.1:c.388G>C ENSP00000501811.1:p.Gly130Arg
ENST00000675112.1:n.411G>C
ENST00000676254.1:n.837G>C
ENST00000372500.4:c.292G>C ENSP00000361578.4:p.Gly98Arg
ENST00000426263.7:c.388G>C ENSP00000416293.2:p.Gly130Arg
ENST00000439722.2:c.267G>C ENSP00000395521.2:n.267G>C
ENST00000475162.3:c.287G>C
ENST00000625233.2:n.596G>C
ENST00000630287.2:c.388G>C ENSP00000486694.1:p.Gly130Arg
NM_006516.2:c.388G>C NP_006507.2:p.Gly130Arg
NM_006516.3:c.388G>C NP_006507.2:p.Gly130Arg
NM_006516.4:c.388G>C MANE Select NP_006507.2:p.Gly130Arg
Search 100 bp 5'
Search 100 bp 3'