Canonical Allele Identifier: CA341099564

Gene: GLMN

Linked Data

• dbSNP Id: rs1369889881
• gnomAD v2: 1-92731988-T-C
• gnomAD v4: 1-92266431-T-C
• MyVariant Identifiers: chr1:g.92731988T>C (hg19) ; chr1:g.92266431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266431T>C , CM000663.2:g.92266431T>C	GRCh38
NC_000001.10:g.92731988T>C , CM000663.1:g.92731988T>C	GRCh37
NC_000001.9:g.92504576T>C	NCBI36
NG_009796.1:g.37579A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1202A>G MANE Select	ENSP00000359385.3:p.Tyr401Cys
ENST00000370360.7:c.1202A>G	ENSP00000359385.3:p.Tyr401Cys
ENST00000463560.1:c.562+109A>G
ENST00000495106.5:c.1202A>G	ENSP00000436829.1:p.Tyr401Cys
ENST00000495852.6:c.425A>G	ENSP00000469157.2:p.Tyr142Cys
NM_053274.2:c.1202A>G	NP_444504.1:p.Tyr401Cys
XM_005270400.1:c.1160A>G	XP_005270457.1:p.Tyr387Cys
XM_005270401.2:c.1076A>G	XP_005270458.1:p.Tyr359Cys
XM_006710309.1:c.701A>G	XP_006710372.1:p.Tyr234Cys
XM_011540544.1:c.1202A>G	XP_011538846.1:p.Tyr401Cys
XM_011540545.1:c.1202A>G	XP_011538847.1:p.Tyr401Cys
XM_011540546.1:c.1202A>G	XP_011538848.1:p.Tyr401Cys
XR_946529.1:n.1309+109A>G
NM_001319683.1:c.1160A>G	NP_001306612.1:p.Tyr387Cys
NR_135089.1:n.1317A>G
XM_005270401.3:c.1076A>G	XP_005270458.1:p.Tyr359Cys
XM_006710309.2:c.701A>G	XP_006710372.1:p.Tyr234Cys
XM_011540546.2:c.1202A>G	XP_011538848.1:p.Tyr401Cys
XM_017000137.1:c.1301A>G	XP_016855626.1:p.Tyr434Cys
XM_017000138.1:c.1259A>G	XP_016855627.1:p.Tyr420Cys
XM_017000139.1:c.1293+109A>G	XP_016855628.1:n.1293+109A>G
XM_017000140.1:c.1175A>G	XP_016855629.1:p.Tyr392Cys
XM_017000141.1:c.1194+109A>G	XP_016855630.1:n.1194+109A>G
XM_017000142.1:c.659A>G	XP_016855631.1:p.Tyr220Cys
XM_017000143.1:c.659A>G	XP_016855632.1:p.Tyr220Cys
XM_017000144.1:c.431A>G	XP_016855633.1:p.Tyr144Cys
XR_002959248.1:n.1677+109A>G
XR_002959249.1:n.1309+109A>G
NM_053274.3:c.1202A>G MANE Select	NP_444504.1:p.Tyr401Cys
NM_001319683.2:c.1160A>G	NP_001306612.1:p.Tyr387Cys
NR_135089.2:n.1295A>G