Canonical Allele Identifier: CA1141013708
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927728G= , CM000663.2:g.42927728G= GRCh38
NC_000001.10:g.43393399G= , CM000663.1:g.43393399G= GRCh37
NC_000001.9:g.43165986G= NCBI36
NG_008232.1:g.36449C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1155C= MANE Select ENSP00000416293.2:p.Pro385=
ENST00000674545.1:n.1772C=
ENST00000674765.1:c.1030-871C= ENSP00000501811.1:n.1030-871C=
ENST00000675112.1:n.1456C=
ENST00000676254.1:n.1604C=
ENST00000426263.7:c.1155C= ENSP00000416293.2:p.Pro385=
ENST00000475162.3:c.416-750C=
ENST00000630287.2:c.*470C= ENSP00000486694.1:n.*470C=
NM_006516.2:c.1155C= NP_006507.2:p.Pro385=
NM_006516.3:c.1155C= NP_006507.2:p.Pro385=
NM_006516.4:c.1155C= MANE Select NP_006507.2:p.Pro385=