Canonical Allele Identifier: CA2658508

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148996458C>T , CM000665.2:g.148996458C>T	GRCh38
NC_000003.11:g.148714245C>T , CM000665.1:g.148714245C>T	GRCh37
NC_000003.10:g.150196935C>T	NCBI36
NG_027677.1:g.10051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.300C>T MANE Select	ENSP00000340736.4:p.Phe100=
ENST00000296048.10:c.300C>T	ENSP00000296048.6:p.Phe100=
ENST00000345003.8:c.300C>T	ENSP00000340736.4:p.Phe100=
ENST00000461191.1:c.300C>T	ENSP00000420247.1:p.Phe100=
ENST00000465547.1:n.193C>T
ENST00000473005.1:c.162C>T	ENSP00000417671.1:p.Phe54=
ENST00000478067.1:n.370+31C>T
ENST00000483267.5:c.300C>T	ENSP00000419499.1:p.Phe100=
ENST00000484197.5:c.300C>T	ENSP00000420683.1:p.Phe100=
ENST00000492285.6:c.162C>T	ENSP00000418297.2:p.Phe54=
ENST00000627418.2:c.300C>T	ENSP00000486061.1:p.Phe100=
NM_001184720.1:c.300C>T	NP_001171649.1:p.Phe100=
NM_001184721.1:c.300C>T	NP_001171650.1:p.Phe100=
NM_004130.3:c.300C>T	NP_004121.2:p.Phe100=
XM_017006275.1:c.123C>T	XP_016861764.1:p.Phe41=
NM_004130.4:c.300C>T MANE Select	NP_004121.2:p.Phe100=
NM_001184720.2:c.300C>T	NP_001171649.1:p.Phe100=
NM_001184721.2:c.300C>T	NP_001171650.1:p.Phe100=