Canonical Allele Identifier: CA354905038

Gene: GYG1

Linked Data

• MyVariant Identifiers: chr3:g.148727089T>G (hg19) ; chr3:g.149009302T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009302T>G , CM000665.2:g.149009302T>G	GRCh38
NC_000003.11:g.148727089T>G , CM000665.1:g.148727089T>G	GRCh37
NC_000003.10:g.150209779T>G	NCBI36
NG_027677.1:g.22895T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.508T>G MANE Select	ENSP00000340736.4:p.Phe170Val
ENST00000296048.10:c.508T>G	ENSP00000296048.6:p.Phe170Val
ENST00000345003.8:c.508T>G	ENSP00000340736.4:p.Phe170Val
ENST00000461191.1:c.496T>G	ENSP00000420247.1:p.Phe166Val
ENST00000469873.1:n.422T>G
ENST00000479119.1:n.124T>G
ENST00000483267.5:c.469+12410T>G	ENSP00000419499.1:n.469+12410T>G
ENST00000484197.5:c.508T>G	ENSP00000420683.1:p.Phe170Val
ENST00000497528.5:n.147T>G
ENST00000627418.2:c.469+12410T>G	ENSP00000486061.1:n.469+12410T>G
NM_001184720.1:c.508T>G	NP_001171649.1:p.Phe170Val
NM_001184721.1:c.508T>G	NP_001171650.1:p.Phe170Val
NM_004130.3:c.508T>G	NP_004121.2:p.Phe170Val
XM_017006275.1:c.331T>G	XP_016861764.1:p.Phe111Val
XM_017006276.1:c.46T>G	XP_016861765.1:p.Phe16Val
NM_004130.4:c.508T>G MANE Select	NP_004121.2:p.Phe170Val
NM_001184720.2:c.508T>G	NP_001171649.1:p.Phe170Val
NM_001184721.2:c.508T>G	NP_001171650.1:p.Phe170Val