Canonical Allele Identifier: CA354910331

Gene: GYG1

Linked Data

• MyVariant Identifiers: chr3:g.148712048G>C (hg19) ; chr3:g.148994261G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994261G>C , CM000665.2:g.148994261G>C	GRCh38
NC_000003.11:g.148712048G>C , CM000665.1:g.148712048G>C	GRCh37
NC_000003.10:g.150194738G>C	NCBI36
NG_027677.1:g.7854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.127G>C MANE Select	ENSP00000340736.4:p.Val43Leu
ENST00000296048.10:c.127G>C	ENSP00000296048.6:p.Val43Leu
ENST00000345003.8:c.127G>C	ENSP00000340736.4:p.Val43Leu
ENST00000461191.1:c.127G>C	ENSP00000420247.1:p.Val43Leu
ENST00000465547.1:n.49+1G>C
ENST00000473005.1:c.-12G>C	ENSP00000417671.1:n.-12G>C
ENST00000478067.1:n.228G>C
ENST00000483267.5:c.127G>C	ENSP00000419499.1:p.Val43Leu
ENST00000484197.5:c.127G>C	ENSP00000420683.1:p.Val43Leu
ENST00000492285.6:c.-12G>C	ENSP00000418297.2:n.-12G>C
ENST00000627418.2:c.127G>C	ENSP00000486061.1:p.Val43Leu
NM_001184720.1:c.127G>C	NP_001171649.1:p.Val43Leu
NM_001184721.1:c.127G>C	NP_001171650.1:p.Val43Leu
NM_004130.3:c.127G>C	NP_004121.2:p.Val43Leu
XM_017006275.1:c.-34-2041G>C	XP_016861764.1:n.-34-2041G>C
NM_004130.4:c.127G>C MANE Select	NP_004121.2:p.Val43Leu
NM_001184720.2:c.127G>C	NP_001171649.1:p.Val43Leu
NM_001184721.2:c.127G>C	NP_001171650.1:p.Val43Leu