Canonical Allele Identifier: CA2658458
Gene: GYG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381418
dbSNP Id: rs61733452

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.148994248C>T , CM000665.2:g.148994248C>T GRCh38
NC_000003.11:g.148712035C>T , CM000665.1:g.148712035C>T GRCh37
NC_000003.10:g.150194725C>T NCBI36
NG_027677.1:g.7841C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000345003.9:c.114C>T MANE Select ENSP00000340736.4:p.Leu38=
ENST00000296048.10:c.114C>T ENSP00000296048.6:p.Leu38=
ENST00000345003.8:c.114C>T ENSP00000340736.4:p.Leu38=
ENST00000461191.1:c.114C>T ENSP00000420247.1:p.Leu38=
ENST00000465547.1:n.37C>T
ENST00000473005.1:c.-25C>T ENSP00000417671.1:p.=
ENST00000478067.1:n.215C>T
ENST00000483267.5:c.114C>T ENSP00000419499.1:p.Leu38=
ENST00000484197.5:c.114C>T ENSP00000420683.1:p.Leu38=
ENST00000492285.6:c.-25C>T ENSP00000418297.2:p.=
ENST00000627418.2:c.114C>T ENSP00000486061.1:p.Leu38=
NM_001184720.1:c.114C>T NP_001171649.1:p.Leu38=
NM_001184721.1:c.114C>T NP_001171650.1:p.Leu38=
NM_004130.3:c.114C>T NP_004121.2:p.Leu38=
XM_017006275.1:c.-34-2054C>T XP_016861764.1:p.=
NM_004130.4:c.114C>T MANE Select NP_004121.2:p.Leu38=
NM_001184720.2:c.114C>T NP_001171649.1:p.Leu38=
NM_001184721.2:c.114C>T NP_001171650.1:p.Leu38=