Canonical Allele Identifier: CA417543760

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1570593471
• gnomAD v4: 1-42930719-G-A
• MyVariant Identifiers: chr1:g.43396390G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930719G>A , CM000663.2:g.42930719G>A	GRCh38
NC_000001.10:g.43396390G>A , CM000663.1:g.43396390G>A	GRCh37
NC_000001.9:g.43168977G>A	NCBI36
NG_008232.1:g.33458C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.423C>T MANE Select	ENSP00000416293.2:p.Pro141=
ENST00000674765.1:c.423C>T	ENSP00000501811.1:p.Pro141=
ENST00000675112.1:n.446C>T
ENST00000676254.1:n.872C>T
ENST00000372500.4:c.327C>T	ENSP00000361578.4:p.Pro109=
ENST00000426263.7:c.423C>T	ENSP00000416293.2:p.Pro141=
ENST00000439722.2:c.302C>T	ENSP00000395521.2:n.302C>T
ENST00000475162.3:c.322C>T
ENST00000625233.2:n.631C>T
ENST00000630287.2:c.423C>T	ENSP00000486694.1:p.Pro141=
NM_006516.2:c.423C>T	NP_006507.2:p.Pro141=
NM_006516.3:c.423C>T	NP_006507.2:p.Pro141=
NM_006516.4:c.423C>T MANE Select	NP_006507.2:p.Pro141=