Allele Registry

Canonical Allele Identifier: CA16603691

Gene: SLC2A1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.42929954G>A

GRCh37 chr1:g.43395625G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000429681

RCV001865350

RCV003446013

ClinVar Variation:

384478

dbSNP:

1057521967

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929954G>A , CM000663.2:g.42929954G>A	GRCh38
NC_000001.10:g.43395625G>A , CM000663.1:g.43395625G>A	GRCh37
NC_000001.9:g.43168212G>A	NCBI36
NG_008232.1:g.34223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.598C>T MANE Select	ENSP00000416293.2:p.Gln200Ter
ENST00000674765.1:c.598C>T	ENSP00000501811.1:p.Gln200Ter
ENST00000675112.1:n.621C>T
ENST00000676254.1:n.1047C>T
ENST00000426263.7:c.598C>T	ENSP00000416293.2:p.Gln200Ter
ENST00000439722.2:c.477C>T	ENSP00000395521.2:n.477C>T
ENST00000475162.3:c.415+672C>T
ENST00000630287.2:c.517-174C>T	ENSP00000486694.1:n.517-174C>T
NM_006516.2:c.598C>T	NP_006507.2:p.Gln200Ter
NM_006516.3:c.598C>T	NP_006507.2:p.Gln200Ter
NM_006516.4:c.598C>T MANE Select	NP_006507.2:p.Gln200Ter

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