Canonical Allele Identifier: CA354905446

Gene: GYG1

Linked Data

• MyVariant Identifiers: chr3:g.148727184T>A (hg19) ; chr3:g.149009397T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009397T>A , CM000665.2:g.149009397T>A	GRCh38
NC_000003.11:g.148727184T>A , CM000665.1:g.148727184T>A	GRCh37
NC_000003.10:g.150209874T>A	NCBI36
NG_027677.1:g.22990T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.603T>A MANE Select	ENSP00000340736.4:p.Phe201Leu
ENST00000296048.10:c.603T>A	ENSP00000296048.6:p.Phe201Leu
ENST00000345003.8:c.603T>A	ENSP00000340736.4:p.Phe201Leu
ENST00000461191.1:c.591T>A	ENSP00000420247.1:p.Phe197Leu
ENST00000469873.1:n.517T>A
ENST00000479119.1:n.219T>A
ENST00000483267.5:c.469+12505T>A	ENSP00000419499.1:n.469+12505T>A
ENST00000484197.5:c.603T>A	ENSP00000420683.1:p.Phe201Leu
ENST00000627418.2:c.469+12505T>A	ENSP00000486061.1:n.469+12505T>A
NM_001184720.1:c.603T>A	NP_001171649.1:p.Phe201Leu
NM_001184721.1:c.603T>A	NP_001171650.1:p.Phe201Leu
NM_004130.3:c.603T>A	NP_004121.2:p.Phe201Leu
XM_017006275.1:c.426T>A	XP_016861764.1:p.Phe142Leu
XM_017006276.1:c.141T>A	XP_016861765.1:p.Phe47Leu
NM_004130.4:c.603T>A MANE Select	NP_004121.2:p.Phe201Leu
NM_001184720.2:c.603T>A	NP_001171649.1:p.Phe201Leu
NM_001184721.2:c.603T>A	NP_001171650.1:p.Phe201Leu