Canonical Allele Identifier: CA1410031386
Gene: GYG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149009374A= , CM000665.2:g.149009374A= GRCh38
NC_000003.11:g.148727161A= , CM000665.1:g.148727161A= GRCh37
NC_000003.10:g.150209851A= NCBI36
NG_027677.1:g.22967A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000345003.9:c.580A= MANE Select ENSP00000340736.4:p.Ile194=
ENST00000296048.10:c.580A= ENSP00000296048.6:p.Ile194=
ENST00000345003.8:c.580A= ENSP00000340736.4:p.Ile194=
ENST00000461191.1:c.568A= ENSP00000420247.1:p.Ile190=
ENST00000469873.1:n.494A=
ENST00000479119.1:n.196A=
ENST00000483267.5:c.469+12482A= ENSP00000419499.1:n.469+12482A=
ENST00000484197.5:c.580A= ENSP00000420683.1:p.Ile194=
ENST00000497528.5:n.219A=
ENST00000627418.2:c.469+12482A= ENSP00000486061.1:n.469+12482A=
NM_001184720.1:c.580A= NP_001171649.1:p.Ile194=
NM_001184721.1:c.580A= NP_001171650.1:p.Ile194=
NM_004130.3:c.580A= NP_004121.2:p.Ile194=
XM_017006275.1:c.403A= XP_016861764.1:p.Ile135=
XM_017006276.1:c.118A= XP_016861765.1:p.Ile40=
NM_004130.4:c.580A= MANE Select NP_004121.2:p.Ile194=
NM_001184720.2:c.580A= NP_001171649.1:p.Ile194=
NM_001184721.2:c.580A= NP_001171650.1:p.Ile194=