Canonical Allele Identifier: CA2668126498
Gene: GYG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149009222dup , CM000665.2:g.149009222dup GRCh38
NC_000003.11:g.148727009dup , CM000665.1:g.148727009dup GRCh37
NC_000003.10:g.150209699dup NCBI36
NG_027677.1:g.22815dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000345003.9:c.482-54dup MANE Select ENSP00000340736.4:n.482-54dup
ENST00000296048.10:c.482-54dup ENSP00000296048.6:n.482-54dup
ENST00000345003.8:c.482-54dup ENSP00000340736.4:n.482-54dup
ENST00000461191.1:c.470-54dup ENSP00000420247.1:n.470-54dup
ENST00000469873.1:n.342dup
ENST00000479119.1:n.98-54dup
ENST00000483267.5:c.469+12330dup ENSP00000419499.1:n.469+12330dup
ENST00000484197.5:c.482-54dup ENSP00000420683.1:n.482-54dup
ENST00000497528.5:n.121-54dup
ENST00000627418.2:c.469+12330dup ENSP00000486061.1:n.469+12330dup
NM_001184720.1:c.482-54dup NP_001171649.1:n.482-54dup
NM_001184721.1:c.482-54dup NP_001171650.1:n.482-54dup
NM_004130.3:c.482-54dup NP_004121.2:n.482-54dup
XM_017006275.1:c.305-54dup XP_016861764.1:n.305-54dup
XM_017006276.1:c.20-54dup XP_016861765.1:n.20-54dup
NM_004130.4:c.482-54dup MANE Select NP_004121.2:n.482-54dup
NM_001184720.2:c.482-54dup NP_001171649.1:n.482-54dup
NM_001184721.2:c.482-54dup NP_001171650.1:n.482-54dup