Canonical Allele Identifier: CA354905436

Gene: GYG1

Linked Data

• MyVariant Identifiers: chr3:g.148727180C>G (hg19) ; chr3:g.149009393C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009393C>G , CM000665.2:g.149009393C>G	GRCh38
NC_000003.11:g.148727180C>G , CM000665.1:g.148727180C>G	GRCh37
NC_000003.10:g.150209870C>G	NCBI36
NG_027677.1:g.22986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.599C>G MANE Select	ENSP00000340736.4:p.Ala200Gly
ENST00000296048.10:c.599C>G	ENSP00000296048.6:p.Ala200Gly
ENST00000345003.8:c.599C>G	ENSP00000340736.4:p.Ala200Gly
ENST00000461191.1:c.587C>G	ENSP00000420247.1:p.Ala196Gly
ENST00000469873.1:n.513C>G
ENST00000479119.1:n.215C>G
ENST00000483267.5:c.469+12501C>G	ENSP00000419499.1:n.469+12501C>G
ENST00000484197.5:c.599C>G	ENSP00000420683.1:p.Ala200Gly
ENST00000627418.2:c.469+12501C>G	ENSP00000486061.1:n.469+12501C>G
NM_001184720.1:c.599C>G	NP_001171649.1:p.Ala200Gly
NM_001184721.1:c.599C>G	NP_001171650.1:p.Ala200Gly
NM_004130.3:c.599C>G	NP_004121.2:p.Ala200Gly
XM_017006275.1:c.422C>G	XP_016861764.1:p.Ala141Gly
XM_017006276.1:c.137C>G	XP_016861765.1:p.Ala46Gly
NM_004130.4:c.599C>G MANE Select	NP_004121.2:p.Ala200Gly
NM_001184720.2:c.599C>G	NP_001171649.1:p.Ala200Gly
NM_001184721.2:c.599C>G	NP_001171650.1:p.Ala200Gly