Canonical Allele Identifier: CA1054781627

Gene: GYG1

Linked Data

• dbSNP Id: rs1713573515
• gnomAD v3: 3-149009157-T-TAA
• gnomAD v4: 3-149009157-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009157_149009158insAA , CM000665.2:g.149009157_149009158insAA	GRCh38
NC_000003.11:g.148726944_148726945insAA , CM000665.1:g.148726944_148726945insAA	GRCh37
NC_000003.10:g.150209634_150209635insAA	NCBI36
NG_027677.1:g.22750_22751insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.482-119_482-118insAA MANE Select	ENSP00000340736.4:n.482-119_482-118insAA
ENST00000296048.10:c.482-119_482-118insAA	ENSP00000296048.6:n.482-119_482-118insAA
ENST00000345003.8:c.482-119_482-118insAA	ENSP00000340736.4:n.482-119_482-118insAA
ENST00000461191.1:c.470-119_470-118insAA	ENSP00000420247.1:n.470-119_470-118insAA
ENST00000469873.1:n.277_278insAA
ENST00000479119.1:n.98-119_98-118insAA
ENST00000483267.5:c.469+12265_469+12266insAA	ENSP00000419499.1:n.469+12265_469+12266insAA
ENST00000484197.5:c.482-119_482-118insAA	ENSP00000420683.1:n.482-119_482-118insAA
ENST00000497528.5:n.121-119_121-118insAA
ENST00000627418.2:c.469+12265_469+12266insAA	ENSP00000486061.1:n.469+12265_469+12266insAA
NM_001184720.1:c.482-119_482-118insAA	NP_001171649.1:n.482-119_482-118insAA
NM_001184721.1:c.482-119_482-118insAA	NP_001171650.1:n.482-119_482-118insAA
NM_004130.3:c.482-119_482-118insAA	NP_004121.2:n.482-119_482-118insAA
XM_017006275.1:c.305-119_305-118insAA	XP_016861764.1:n.305-119_305-118insAA
XM_017006276.1:c.20-119_20-118insAA	XP_016861765.1:n.20-119_20-118insAA
NM_004130.4:c.482-119_482-118insAA MANE Select	NP_004121.2:n.482-119_482-118insAA
NM_001184720.2:c.482-119_482-118insAA	NP_001171649.1:n.482-119_482-118insAA
NM_001184721.2:c.482-119_482-118insAA	NP_001171650.1:n.482-119_482-118insAA