Canonical Allele Identifier: CA85546040

Gene: GYG1

Linked Data

• ClinVar Variation Id: 2926005
• ClinVar RCV Id: RCV003786291
• dbSNP Id: rs985019447
• gnomAD v4: 3-148994159-C-CT
• MyVariant Identifiers: chr3:g.148711946_148711947insT (hg19) ; chr3:g.148994159_148994160insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994160dup , CM000665.2:g.148994160dup	GRCh38
NC_000003.11:g.148711947dup , CM000665.1:g.148711947dup	GRCh37
NC_000003.10:g.150194637dup	NCBI36
NG_027677.1:g.7753dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.26dup MANE Select	ENSP00000340736.4:p.Thr10AsnfsTer?
ENST00000296048.10:c.26dup	ENSP00000296048.6:p.Thr10AsnfsTer?
ENST00000345003.8:c.26dup	ENSP00000340736.4:p.Thr10AsnfsTer?
ENST00000461191.1:c.26dup	ENSP00000420247.1:p.Thr10AsnfsTer?
ENST00000473005.1:c.-113dup	ENSP00000417671.1:n.-113dup
ENST00000478067.1:n.127dup
ENST00000483267.5:c.26dup	ENSP00000419499.1:p.Thr10AsnfsTer?
ENST00000484197.5:c.26dup	ENSP00000420683.1:p.Thr10AsnfsTer?
ENST00000492285.6:c.-113dup	ENSP00000418297.2:n.-113dup
ENST00000627418.2:c.26dup	ENSP00000486061.1:p.Thr10AsnfsTer?
NM_001184720.1:c.26dup	NP_001171649.1:p.Thr10AsnfsTer?
NM_001184721.1:c.26dup	NP_001171650.1:p.Thr10AsnfsTer?
NM_004130.3:c.26dup	NP_004121.2:p.Thr10AsnfsTer?
XM_017006275.1:c.-34-2142dup	XP_016861764.1:n.-34-2142dup
NM_004130.4:c.26dup MANE Select	NP_004121.2:p.Thr10AsnfsTer?
NM_001184720.2:c.26dup	NP_001171649.1:p.Thr10AsnfsTer?
NM_001184721.2:c.26dup	NP_001171650.1:p.Thr10AsnfsTer?