Canonical Allele Identifier: CA1410031399

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009395T= , CM000665.2:g.149009395T=	GRCh38
NC_000003.11:g.148727182T= , CM000665.1:g.148727182T=	GRCh37
NC_000003.10:g.150209872T=	NCBI36
NG_027677.1:g.22988T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.601T= MANE Select	ENSP00000340736.4:p.Phe201=
ENST00000296048.10:c.601T=	ENSP00000296048.6:p.Phe201=
ENST00000345003.8:c.601T=	ENSP00000340736.4:p.Phe201=
ENST00000461191.1:c.589T=	ENSP00000420247.1:p.Phe197=
ENST00000469873.1:n.515T=
ENST00000479119.1:n.217T=
ENST00000483267.5:c.469+12503T=	ENSP00000419499.1:n.469+12503T=
ENST00000484197.5:c.601T=	ENSP00000420683.1:p.Phe201=
ENST00000627418.2:c.469+12503T=	ENSP00000486061.1:n.469+12503T=
NM_001184720.1:c.601T=	NP_001171649.1:p.Phe201=
NM_001184721.1:c.601T=	NP_001171650.1:p.Phe201=
NM_004130.3:c.601T=	NP_004121.2:p.Phe201=
XM_017006275.1:c.424T=	XP_016861764.1:p.Phe142=
XM_017006276.1:c.139T=	XP_016861765.1:p.Phe47=
NM_004130.4:c.601T= MANE Select	NP_004121.2:p.Phe201=
NM_001184720.2:c.601T=	NP_001171649.1:p.Phe201=
NM_001184721.2:c.601T=	NP_001171650.1:p.Phe201=