Canonical Allele Identifier: CA354905318

Gene: GYG1

Linked Data

• gnomAD v4: 3-149009360-T-C
• MyVariant Identifiers: chr3:g.148727147T>C (hg19) ; chr3:g.149009360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009360T>C , CM000665.2:g.149009360T>C	GRCh38
NC_000003.11:g.148727147T>C , CM000665.1:g.148727147T>C	GRCh37
NC_000003.10:g.150209837T>C	NCBI36
NG_027677.1:g.22953T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.566T>C MANE Select	ENSP00000340736.4:p.Leu189Pro
ENST00000296048.10:c.566T>C	ENSP00000296048.6:p.Leu189Pro
ENST00000345003.8:c.566T>C	ENSP00000340736.4:p.Leu189Pro
ENST00000461191.1:c.554T>C	ENSP00000420247.1:p.Leu185Pro
ENST00000469873.1:n.480T>C
ENST00000479119.1:n.182T>C
ENST00000483267.5:c.469+12468T>C	ENSP00000419499.1:n.469+12468T>C
ENST00000484197.5:c.566T>C	ENSP00000420683.1:p.Leu189Pro
ENST00000497528.5:n.205T>C
ENST00000627418.2:c.469+12468T>C	ENSP00000486061.1:n.469+12468T>C
NM_001184720.1:c.566T>C	NP_001171649.1:p.Leu189Pro
NM_001184721.1:c.566T>C	NP_001171650.1:p.Leu189Pro
NM_004130.3:c.566T>C	NP_004121.2:p.Leu189Pro
XM_017006275.1:c.389T>C	XP_016861764.1:p.Leu130Pro
XM_017006276.1:c.104T>C	XP_016861765.1:p.Leu35Pro
NM_004130.4:c.566T>C MANE Select	NP_004121.2:p.Leu189Pro
NM_001184720.2:c.566T>C	NP_001171649.1:p.Leu189Pro
NM_001184721.2:c.566T>C	NP_001171650.1:p.Leu189Pro