Canonical Allele Identifier: CA354905321

Gene: GYG1

Linked Data

• MyVariant Identifiers: chr3:g.148727149A>T (hg19) ; chr3:g.149009362A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009362A>T , CM000665.2:g.149009362A>T	GRCh38
NC_000003.11:g.148727149A>T , CM000665.1:g.148727149A>T	GRCh37
NC_000003.10:g.150209839A>T	NCBI36
NG_027677.1:g.22955A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.568A>T MANE Select	ENSP00000340736.4:p.Ser190Cys
ENST00000296048.10:c.568A>T	ENSP00000296048.6:p.Ser190Cys
ENST00000345003.8:c.568A>T	ENSP00000340736.4:p.Ser190Cys
ENST00000461191.1:c.556A>T	ENSP00000420247.1:p.Ser186Cys
ENST00000469873.1:n.482A>T
ENST00000479119.1:n.184A>T
ENST00000483267.5:c.469+12470A>T	ENSP00000419499.1:n.469+12470A>T
ENST00000484197.5:c.568A>T	ENSP00000420683.1:p.Ser190Cys
ENST00000497528.5:n.207A>T
ENST00000627418.2:c.469+12470A>T	ENSP00000486061.1:n.469+12470A>T
NM_001184720.1:c.568A>T	NP_001171649.1:p.Ser190Cys
NM_001184721.1:c.568A>T	NP_001171650.1:p.Ser190Cys
NM_004130.3:c.568A>T	NP_004121.2:p.Ser190Cys
XM_017006275.1:c.391A>T	XP_016861764.1:p.Ser131Cys
XM_017006276.1:c.106A>T	XP_016861765.1:p.Ser36Cys
NM_004130.4:c.568A>T MANE Select	NP_004121.2:p.Ser190Cys
NM_001184720.2:c.568A>T	NP_001171649.1:p.Ser190Cys
NM_001184721.2:c.568A>T	NP_001171650.1:p.Ser190Cys