Canonical Allele Identifier: CA341099509

Gene: GLMN

Linked Data

• dbSNP Id: rs1259414825
• gnomAD v2: 1-92731976-C-G
• MyVariant Identifiers: chr1:g.92731976C>G (hg19) ; chr1:g.92266419C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1214G>C MANE Select	ENSP00000359385.3:p.Arg405Thr
ENST00000370360.7:c.1214G>C	ENSP00000359385.3:p.Arg405Thr
ENST00000463560.1:c.562+121G>C
ENST00000495106.5:c.1214G>C	ENSP00000436829.1:p.Arg405Thr
ENST00000495852.6:c.437G>C	ENSP00000469157.2:p.Arg146Thr
NM_053274.2:c.1214G>C	NP_444504.1:p.Arg405Thr
XM_005270400.1:c.1172G>C	XP_005270457.1:p.Arg391Thr
XM_005270401.2:c.1088G>C	XP_005270458.1:p.Arg363Thr
XM_006710309.1:c.713G>C	XP_006710372.1:p.Arg238Thr
XM_011540544.1:c.1214G>C	XP_011538846.1:p.Arg405Thr
XM_011540545.1:c.1214G>C	XP_011538847.1:p.Arg405Thr
XM_011540546.1:c.1214G>C	XP_011538848.1:p.Arg405Thr
XR_946529.1:n.1309+121G>C
NM_001319683.1:c.1172G>C	NP_001306612.1:p.Arg391Thr
NR_135089.1:n.1329G>C
XM_005270401.3:c.1088G>C	XP_005270458.1:p.Arg363Thr
XM_006710309.2:c.713G>C	XP_006710372.1:p.Arg238Thr
XM_011540546.2:c.1214G>C	XP_011538848.1:p.Arg405Thr
XM_017000137.1:c.1313G>C	XP_016855626.1:p.Arg438Thr
XM_017000138.1:c.1271G>C	XP_016855627.1:p.Arg424Thr
XM_017000139.1:c.1293+121G>C	XP_016855628.1:n.1293+121G>C
XM_017000140.1:c.1187G>C	XP_016855629.1:p.Arg396Thr
XM_017000141.1:c.1194+121G>C	XP_016855630.1:n.1194+121G>C
XM_017000142.1:c.671G>C	XP_016855631.1:p.Arg224Thr
XM_017000143.1:c.671G>C	XP_016855632.1:p.Arg224Thr
XM_017000144.1:c.443G>C	XP_016855633.1:p.Arg148Thr
XR_002959248.1:n.1677+121G>C
XR_002959249.1:n.1309+121G>C
NM_053274.3:c.1214G>C MANE Select	NP_444504.1:p.Arg405Thr
NM_001319683.2:c.1172G>C	NP_001306612.1:p.Arg391Thr
NR_135089.2:n.1307G>C