Canonical Allele Identifier: CA341099656

Gene: GLMN

Linked Data

• dbSNP Id: rs1384743047
• gnomAD v2: 1-92732009-T-C
• gnomAD v4: 1-92266452-T-C
• MyVariant Identifiers: chr1:g.92732009T>C (hg19) ; chr1:g.92266452T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266452T>C , CM000663.2:g.92266452T>C	GRCh38
NC_000001.10:g.92732009T>C , CM000663.1:g.92732009T>C	GRCh37
NC_000001.9:g.92504597T>C	NCBI36
NG_009796.1:g.37558A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1181A>G MANE Select	ENSP00000359385.3:p.Lys394Arg
ENST00000370360.7:c.1181A>G	ENSP00000359385.3:p.Lys394Arg
ENST00000463560.1:c.562+88A>G
ENST00000495106.5:c.1181A>G	ENSP00000436829.1:p.Lys394Arg
ENST00000495852.6:c.404A>G	ENSP00000469157.2:p.Lys135Arg
NM_053274.2:c.1181A>G	NP_444504.1:p.Lys394Arg
XM_005270400.1:c.1139A>G	XP_005270457.1:p.Lys380Arg
XM_005270401.2:c.1055A>G	XP_005270458.1:p.Lys352Arg
XM_006710309.1:c.680A>G	XP_006710372.1:p.Lys227Arg
XM_011540544.1:c.1181A>G	XP_011538846.1:p.Lys394Arg
XM_011540545.1:c.1181A>G	XP_011538847.1:p.Lys394Arg
XM_011540546.1:c.1181A>G	XP_011538848.1:p.Lys394Arg
XR_946529.1:n.1309+88A>G
NM_001319683.1:c.1139A>G	NP_001306612.1:p.Lys380Arg
NR_135089.1:n.1296A>G
XM_005270401.3:c.1055A>G	XP_005270458.1:p.Lys352Arg
XM_006710309.2:c.680A>G	XP_006710372.1:p.Lys227Arg
XM_011540546.2:c.1181A>G	XP_011538848.1:p.Lys394Arg
XM_017000137.1:c.1280A>G	XP_016855626.1:p.Lys427Arg
XM_017000138.1:c.1238A>G	XP_016855627.1:p.Lys413Arg
XM_017000139.1:c.1293+88A>G	XP_016855628.1:n.1293+88A>G
XM_017000140.1:c.1154A>G	XP_016855629.1:p.Lys385Arg
XM_017000141.1:c.1194+88A>G	XP_016855630.1:n.1194+88A>G
XM_017000142.1:c.638A>G	XP_016855631.1:p.Lys213Arg
XM_017000143.1:c.638A>G	XP_016855632.1:p.Lys213Arg
XM_017000144.1:c.410A>G	XP_016855633.1:p.Lys137Arg
XR_002959248.1:n.1677+88A>G
XR_002959249.1:n.1309+88A>G
NM_053274.3:c.1181A>G MANE Select	NP_444504.1:p.Lys394Arg
NM_001319683.2:c.1139A>G	NP_001306612.1:p.Lys380Arg
NR_135089.2:n.1274A>G