Canonical Allele Identifier: CA339957883

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1184570993
• gnomAD v2: 1-43395366-C-G
• gnomAD v3: 1-42929695-C-G
• gnomAD v4: 1-42929695-C-G
• MyVariant Identifiers: chr1:g.43395366C>G (hg19) ; chr1:g.42929695C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929695C>G , CM000663.2:g.42929695C>G	GRCh38
NC_000001.10:g.43395366C>G , CM000663.1:g.43395366C>G	GRCh37
NC_000001.9:g.43167953C>G	NCBI36
NG_008232.1:g.34482G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.765G>C MANE Select	ENSP00000416293.2:p.Lys255Asn
ENST00000669445.1:c.95G>C
ENST00000674765.1:c.765G>C	ENSP00000501811.1:p.Lys255Asn
ENST00000675112.1:n.788G>C
ENST00000676254.1:n.1214G>C
ENST00000426263.7:c.765G>C	ENSP00000416293.2:p.Lys255Asn
ENST00000439722.2:c.644G>C	ENSP00000395521.2:n.644G>C
ENST00000475162.3:c.415+931G>C
ENST00000630287.2:c.*80G>C	ENSP00000486694.1:n.*80G>C
NM_006516.2:c.765G>C	NP_006507.2:p.Lys255Asn
NM_006516.3:c.765G>C	NP_006507.2:p.Lys255Asn
NM_006516.4:c.765G>C MANE Select	NP_006507.2:p.Lys255Asn