Canonical Allele Identifier: CA339957491

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2836471
• ClinVar RCV Id: RCV003631929
• MyVariant Identifiers: chr1:g.43395320G>C (hg19) ; chr1:g.42929649G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929649G>C , CM000663.2:g.42929649G>C	GRCh38
NC_000001.10:g.43395320G>C , CM000663.1:g.43395320G>C	GRCh37
NC_000001.9:g.43167907G>C	NCBI36
NG_008232.1:g.34528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.811C>G MANE Select	ENSP00000416293.2:p.Pro271Ala
ENST00000669445.1:c.141C>G
ENST00000674765.1:c.811C>G	ENSP00000501811.1:p.Pro271Ala
ENST00000675112.1:n.834C>G
ENST00000676254.1:n.1260C>G
ENST00000426263.7:c.811C>G	ENSP00000416293.2:p.Pro271Ala
ENST00000439722.2:c.690C>G	ENSP00000395521.2:n.690C>G
ENST00000475162.3:c.415+977C>G
ENST00000630287.2:c.*126C>G	ENSP00000486694.1:n.*126C>G
NM_006516.2:c.811C>G	NP_006507.2:p.Pro271Ala
NM_006516.3:c.811C>G	NP_006507.2:p.Pro271Ala
NM_006516.4:c.811C>G MANE Select	NP_006507.2:p.Pro271Ala