Canonical Allele Identifier: CA354905464
Gene: GYG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1934847
ClinVar RCV Id: RCV002622772
dbSNP Id: rs1179024050

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149009401G>A , CM000665.2:g.149009401G>A GRCh38
NC_000003.11:g.148727188G>A , CM000665.1:g.148727188G>A GRCh37
NC_000003.10:g.150209878G>A NCBI36
NG_027677.1:g.22994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000345003.9:c.607G>A MANE Select ENSP00000340736.4:p.Val203Met
ENST00000296048.10:c.607G>A ENSP00000296048.6:p.Val203Met
ENST00000345003.8:c.607G>A ENSP00000340736.4:p.Val203Met
ENST00000461191.1:c.595G>A ENSP00000420247.1:p.Val199Met
ENST00000469873.1:n.521G>A
ENST00000479119.1:n.223G>A
ENST00000483267.5:c.469+12509G>A ENSP00000419499.1:n.469+12509G>A
ENST00000484197.5:c.607G>A ENSP00000420683.1:p.Val203Met
ENST00000627418.2:c.469+12509G>A ENSP00000486061.1:n.469+12509G>A
NM_001184720.1:c.607G>A NP_001171649.1:p.Val203Met
NM_001184721.1:c.607G>A NP_001171650.1:p.Val203Met
NM_004130.3:c.607G>A NP_004121.2:p.Val203Met
XM_017006275.1:c.430G>A XP_016861764.1:p.Val144Met
XM_017006276.1:c.145G>A XP_016861765.1:p.Val49Met
NM_004130.4:c.607G>A MANE Select NP_004121.2:p.Val203Met
NM_001184720.2:c.607G>A NP_001171649.1:p.Val203Met
NM_001184721.2:c.607G>A NP_001171650.1:p.Val203Met