Canonical Allele Identifier: CA354905438

Gene: GYG1

Linked Data

• dbSNP Id: rs142318183
• MyVariant Identifiers: chr3:g.148727182T>C (hg19) ; chr3:g.149009395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009395T>C , CM000665.2:g.149009395T>C	GRCh38
NC_000003.11:g.148727182T>C , CM000665.1:g.148727182T>C	GRCh37
NC_000003.10:g.150209872T>C	NCBI36
NG_027677.1:g.22988T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.601T>C MANE Select	ENSP00000340736.4:p.Phe201Leu
ENST00000296048.10:c.601T>C	ENSP00000296048.6:p.Phe201Leu
ENST00000345003.8:c.601T>C	ENSP00000340736.4:p.Phe201Leu
ENST00000461191.1:c.589T>C	ENSP00000420247.1:p.Phe197Leu
ENST00000469873.1:n.515T>C
ENST00000479119.1:n.217T>C
ENST00000483267.5:c.469+12503T>C	ENSP00000419499.1:n.469+12503T>C
ENST00000484197.5:c.601T>C	ENSP00000420683.1:p.Phe201Leu
ENST00000627418.2:c.469+12503T>C	ENSP00000486061.1:n.469+12503T>C
NM_001184720.1:c.601T>C	NP_001171649.1:p.Phe201Leu
NM_001184721.1:c.601T>C	NP_001171650.1:p.Phe201Leu
NM_004130.3:c.601T>C	NP_004121.2:p.Phe201Leu
XM_017006275.1:c.424T>C	XP_016861764.1:p.Phe142Leu
XM_017006276.1:c.139T>C	XP_016861765.1:p.Phe47Leu
NM_004130.4:c.601T>C MANE Select	NP_004121.2:p.Phe201Leu
NM_001184720.2:c.601T>C	NP_001171649.1:p.Phe201Leu
NM_001184721.2:c.601T>C	NP_001171650.1:p.Phe201Leu