Canonical Allele Identifier: CA354909905

Gene: GYG1

Linked Data

• gnomAD v4: 3-148994199-T-C
• MyVariant Identifiers: chr3:g.148711986T>C (hg19) ; chr3:g.148994199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994199T>C , CM000665.2:g.148994199T>C	GRCh38
NC_000003.11:g.148711986T>C , CM000665.1:g.148711986T>C	GRCh37
NC_000003.10:g.150194676T>C	NCBI36
NG_027677.1:g.7792T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.65T>C MANE Select	ENSP00000340736.4:p.Leu22Pro
ENST00000296048.10:c.65T>C	ENSP00000296048.6:p.Leu22Pro
ENST00000345003.8:c.65T>C	ENSP00000340736.4:p.Leu22Pro
ENST00000461191.1:c.65T>C	ENSP00000420247.1:p.Leu22Pro
ENST00000473005.1:c.-74T>C	ENSP00000417671.1:n.-74T>C
ENST00000478067.1:n.166T>C
ENST00000483267.5:c.65T>C	ENSP00000419499.1:p.Leu22Pro
ENST00000484197.5:c.65T>C	ENSP00000420683.1:p.Leu22Pro
ENST00000492285.6:c.-74T>C	ENSP00000418297.2:n.-74T>C
ENST00000627418.2:c.65T>C	ENSP00000486061.1:p.Leu22Pro
NM_001184720.1:c.65T>C	NP_001171649.1:p.Leu22Pro
NM_001184721.1:c.65T>C	NP_001171650.1:p.Leu22Pro
NM_004130.3:c.65T>C	NP_004121.2:p.Leu22Pro
XM_017006275.1:c.-34-2103T>C	XP_016861764.1:n.-34-2103T>C
NM_004130.4:c.65T>C MANE Select	NP_004121.2:p.Leu22Pro
NM_001184720.2:c.65T>C	NP_001171649.1:p.Leu22Pro
NM_001184721.2:c.65T>C	NP_001171650.1:p.Leu22Pro