Canonical Allele Identifier: CA354909239

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149026777C>T , CM000665.2:g.149026777C>T	GRCh38
NC_000003.11:g.148744564C>T , CM000665.1:g.148744564C>T	GRCh37
NC_000003.10:g.150227254C>T	NCBI36
NG_027677.1:g.40370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.897C>T MANE Select	ENSP00000340736.4:p.Ala299=
ENST00000296048.10:c.846C>T	ENSP00000296048.6:p.Ala282=
ENST00000345003.8:c.897C>T	ENSP00000340736.4:p.Ala299=
ENST00000479119.1:n.242C>T
ENST00000484197.5:c.626C>T	ENSP00000420683.1:p.Pro209Leu
ENST00000627418.2:c.*125C>T	ENSP00000486061.1:n.*125C>T
NM_001184720.1:c.846C>T	NP_001171649.1:p.Ala282=
NM_001184721.1:c.626C>T	NP_001171650.1:p.Pro209Leu
NM_004130.3:c.897C>T	NP_004121.2:p.Ala299=
XM_017006275.1:c.669C>T	XP_016861764.1:p.Ala223=
XM_017006276.1:c.384C>T	XP_016861765.1:p.Ala128=
NM_004130.4:c.897C>T MANE Select	NP_004121.2:p.Ala299=
NM_001184720.2:c.846C>T	NP_001171649.1:p.Ala282=
NM_001184721.2:c.626C>T	NP_001171650.1:p.Pro209Leu