Canonical Allele Identifier: CA341099511

Gene: GLMN

Linked Data

• gnomAD v4: 1-92266419-C-T
• MyVariant Identifiers: chr1:g.92731976C>T (hg19) ; chr1:g.92266419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266419C>T , CM000663.2:g.92266419C>T	GRCh38
NC_000001.10:g.92731976C>T , CM000663.1:g.92731976C>T	GRCh37
NC_000001.9:g.92504564C>T	NCBI36
NG_009796.1:g.37591G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1214G>A MANE Select	ENSP00000359385.3:p.Arg405Lys
ENST00000370360.7:c.1214G>A	ENSP00000359385.3:p.Arg405Lys
ENST00000463560.1:c.562+121G>A
ENST00000495106.5:c.1214G>A	ENSP00000436829.1:p.Arg405Lys
ENST00000495852.6:c.437G>A	ENSP00000469157.2:p.Arg146Lys
NM_053274.2:c.1214G>A	NP_444504.1:p.Arg405Lys
XM_005270400.1:c.1172G>A	XP_005270457.1:p.Arg391Lys
XM_005270401.2:c.1088G>A	XP_005270458.1:p.Arg363Lys
XM_006710309.1:c.713G>A	XP_006710372.1:p.Arg238Lys
XM_011540544.1:c.1214G>A	XP_011538846.1:p.Arg405Lys
XM_011540545.1:c.1214G>A	XP_011538847.1:p.Arg405Lys
XM_011540546.1:c.1214G>A	XP_011538848.1:p.Arg405Lys
XR_946529.1:n.1309+121G>A
NM_001319683.1:c.1172G>A	NP_001306612.1:p.Arg391Lys
NR_135089.1:n.1329G>A
XM_005270401.3:c.1088G>A	XP_005270458.1:p.Arg363Lys
XM_006710309.2:c.713G>A	XP_006710372.1:p.Arg238Lys
XM_011540546.2:c.1214G>A	XP_011538848.1:p.Arg405Lys
XM_017000137.1:c.1313G>A	XP_016855626.1:p.Arg438Lys
XM_017000138.1:c.1271G>A	XP_016855627.1:p.Arg424Lys
XM_017000139.1:c.1293+121G>A	XP_016855628.1:n.1293+121G>A
XM_017000140.1:c.1187G>A	XP_016855629.1:p.Arg396Lys
XM_017000141.1:c.1194+121G>A	XP_016855630.1:n.1194+121G>A
XM_017000142.1:c.671G>A	XP_016855631.1:p.Arg224Lys
XM_017000143.1:c.671G>A	XP_016855632.1:p.Arg224Lys
XM_017000144.1:c.443G>A	XP_016855633.1:p.Arg148Lys
XR_002959248.1:n.1677+121G>A
XR_002959249.1:n.1309+121G>A
NM_053274.3:c.1214G>A MANE Select	NP_444504.1:p.Arg405Lys
NM_001319683.2:c.1172G>A	NP_001306612.1:p.Arg391Lys
NR_135089.2:n.1307G>A