Canonical Allele Identifier: CA354905463

Gene: GYG1

Linked Data

• dbSNP Id: rs1179024050
• MyVariant Identifiers: chr3:g.148727188G>T (hg19) ; chr3:g.149009401G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009401G>T , CM000665.2:g.149009401G>T	GRCh38
NC_000003.11:g.148727188G>T , CM000665.1:g.148727188G>T	GRCh37
NC_000003.10:g.150209878G>T	NCBI36
NG_027677.1:g.22994G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.607G>T MANE Select	ENSP00000340736.4:p.Val203Leu
ENST00000296048.10:c.607G>T	ENSP00000296048.6:p.Val203Leu
ENST00000345003.8:c.607G>T	ENSP00000340736.4:p.Val203Leu
ENST00000461191.1:c.595G>T	ENSP00000420247.1:p.Val199Leu
ENST00000469873.1:n.521G>T
ENST00000479119.1:n.223G>T
ENST00000483267.5:c.469+12509G>T	ENSP00000419499.1:n.469+12509G>T
ENST00000484197.5:c.607G>T	ENSP00000420683.1:p.Val203Leu
ENST00000627418.2:c.469+12509G>T	ENSP00000486061.1:n.469+12509G>T
NM_001184720.1:c.607G>T	NP_001171649.1:p.Val203Leu
NM_001184721.1:c.607G>T	NP_001171650.1:p.Val203Leu
NM_004130.3:c.607G>T	NP_004121.2:p.Val203Leu
XM_017006275.1:c.430G>T	XP_016861764.1:p.Val144Leu
XM_017006276.1:c.145G>T	XP_016861765.1:p.Val49Leu
NM_004130.4:c.607G>T MANE Select	NP_004121.2:p.Val203Leu
NM_001184720.2:c.607G>T	NP_001171649.1:p.Val203Leu
NM_001184721.2:c.607G>T	NP_001171650.1:p.Val203Leu