Canonical Allele Identifier: CA354905456

Gene: GYG1

Linked Data

• MyVariant Identifiers: chr3:g.148727186A>G (hg19) ; chr3:g.149009399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009399A>G , CM000665.2:g.149009399A>G	GRCh38
NC_000003.11:g.148727186A>G , CM000665.1:g.148727186A>G	GRCh37
NC_000003.10:g.150209876A>G	NCBI36
NG_027677.1:g.22992A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.605A>G MANE Select	ENSP00000340736.4:p.Lys202Arg
ENST00000296048.10:c.605A>G	ENSP00000296048.6:p.Lys202Arg
ENST00000345003.8:c.605A>G	ENSP00000340736.4:p.Lys202Arg
ENST00000461191.1:c.593A>G	ENSP00000420247.1:p.Lys198Arg
ENST00000469873.1:n.519A>G
ENST00000479119.1:n.221A>G
ENST00000483267.5:c.469+12507A>G	ENSP00000419499.1:n.469+12507A>G
ENST00000484197.5:c.605A>G	ENSP00000420683.1:p.Lys202Arg
ENST00000627418.2:c.469+12507A>G	ENSP00000486061.1:n.469+12507A>G
NM_001184720.1:c.605A>G	NP_001171649.1:p.Lys202Arg
NM_001184721.1:c.605A>G	NP_001171650.1:p.Lys202Arg
NM_004130.3:c.605A>G	NP_004121.2:p.Lys202Arg
XM_017006275.1:c.428A>G	XP_016861764.1:p.Lys143Arg
XM_017006276.1:c.143A>G	XP_016861765.1:p.Lys48Arg
NM_004130.4:c.605A>G MANE Select	NP_004121.2:p.Lys202Arg
NM_001184720.2:c.605A>G	NP_001171649.1:p.Lys202Arg
NM_001184721.2:c.605A>G	NP_001171650.1:p.Lys202Arg