Canonical Allele Identifier: CA436197847

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009391G>T , CM000665.2:g.149009391G>T	GRCh38
NC_000003.11:g.148727178G>T , CM000665.1:g.148727178G>T	GRCh37
NC_000003.10:g.150209868G>T	NCBI36
NG_027677.1:g.22984G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.597G>T MANE Select	ENSP00000340736.4:p.Pro199=
ENST00000296048.10:c.597G>T	ENSP00000296048.6:p.Pro199=
ENST00000345003.8:c.597G>T	ENSP00000340736.4:p.Pro199=
ENST00000461191.1:c.585G>T	ENSP00000420247.1:p.Pro195=
ENST00000469873.1:n.511G>T
ENST00000479119.1:n.213G>T
ENST00000483267.5:c.469+12499G>T	ENSP00000419499.1:n.469+12499G>T
ENST00000484197.5:c.597G>T	ENSP00000420683.1:p.Pro199=
ENST00000627418.2:c.469+12499G>T	ENSP00000486061.1:n.469+12499G>T
NM_001184720.1:c.597G>T	NP_001171649.1:p.Pro199=
NM_001184721.1:c.597G>T	NP_001171650.1:p.Pro199=
NM_004130.3:c.597G>T	NP_004121.2:p.Pro199=
XM_017006275.1:c.420G>T	XP_016861764.1:p.Pro140=
XM_017006276.1:c.135G>T	XP_016861765.1:p.Pro45=
NM_004130.4:c.597G>T MANE Select	NP_004121.2:p.Pro199=
NM_001184720.2:c.597G>T	NP_001171649.1:p.Pro199=
NM_001184721.2:c.597G>T	NP_001171650.1:p.Pro199=