Canonical Allele Identifier: CA175126

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149026850C>T , CM000665.2:g.149026850C>T	GRCh38
NC_000003.11:g.148744637C>T , CM000665.1:g.148744637C>T	GRCh37
NC_000003.10:g.150227327C>T	NCBI36
NG_027677.1:g.40443C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004130.4:c.970C>T MANE Select	NP_004121.2:p.Arg324Ter
ENST00000345003.9:c.970C>T MANE Select	ENSP00000340736.4:p.Arg324Ter
NM_001184720.1:c.919C>T	NP_001171649.1:p.Arg307Ter
NM_001184720.2:c.919C>T	NP_001171649.1:p.Arg307Ter
NM_001184721.1:c.699C>T	NP_001171650.1:p.Asn233=
NM_001184721.2:c.699C>T	NP_001171650.1:p.Asn233=
NM_004130.3:c.970C>T	NP_004121.2:p.Arg324Ter
ENST00000296048.10:c.919C>T	ENSP00000296048.6:p.Arg307Ter
ENST00000345003.8:c.970C>T	ENSP00000340736.4:p.Arg324Ter
ENST00000479119.1:n.315C>T
ENST00000484197.5:c.699C>T	ENSP00000420683.1:p.Asn233=
ENST00000627418.2:c.*198C>T	ENSP00000486061.1:n.*198C>T
XM_017006275.1:c.742C>T	XP_016861764.1:p.Arg248Ter
XM_017006276.1:c.457C>T	XP_016861765.1:p.Arg153Ter