Canonical Allele Identifier: CA341099615

Gene: GLMN

Linked Data

• gnomAD v4: 1-92266443-G-A
• MyVariant Identifiers: chr1:g.92732000G>A (hg19) ; chr1:g.92266443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266443G>A , CM000663.2:g.92266443G>A	GRCh38
NC_000001.10:g.92732000G>A , CM000663.1:g.92732000G>A	GRCh37
NC_000001.9:g.92504588G>A	NCBI36
NG_009796.1:g.37567C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1190C>T MANE Select	ENSP00000359385.3:p.Ser397Leu
ENST00000370360.7:c.1190C>T	ENSP00000359385.3:p.Ser397Leu
ENST00000463560.1:c.562+97C>T
ENST00000495106.5:c.1190C>T	ENSP00000436829.1:p.Ser397Leu
ENST00000495852.6:c.413C>T	ENSP00000469157.2:p.Ser138Leu
NM_053274.2:c.1190C>T	NP_444504.1:p.Ser397Leu
XM_005270400.1:c.1148C>T	XP_005270457.1:p.Ser383Leu
XM_005270401.2:c.1064C>T	XP_005270458.1:p.Ser355Leu
XM_006710309.1:c.689C>T	XP_006710372.1:p.Ser230Leu
XM_011540544.1:c.1190C>T	XP_011538846.1:p.Ser397Leu
XM_011540545.1:c.1190C>T	XP_011538847.1:p.Ser397Leu
XM_011540546.1:c.1190C>T	XP_011538848.1:p.Ser397Leu
XR_946529.1:n.1309+97C>T
NM_001319683.1:c.1148C>T	NP_001306612.1:p.Ser383Leu
NR_135089.1:n.1305C>T
XM_005270401.3:c.1064C>T	XP_005270458.1:p.Ser355Leu
XM_006710309.2:c.689C>T	XP_006710372.1:p.Ser230Leu
XM_011540546.2:c.1190C>T	XP_011538848.1:p.Ser397Leu
XM_017000137.1:c.1289C>T	XP_016855626.1:p.Ser430Leu
XM_017000138.1:c.1247C>T	XP_016855627.1:p.Ser416Leu
XM_017000139.1:c.1293+97C>T	XP_016855628.1:n.1293+97C>T
XM_017000140.1:c.1163C>T	XP_016855629.1:p.Ser388Leu
XM_017000141.1:c.1194+97C>T	XP_016855630.1:n.1194+97C>T
XM_017000142.1:c.647C>T	XP_016855631.1:p.Ser216Leu
XM_017000143.1:c.647C>T	XP_016855632.1:p.Ser216Leu
XM_017000144.1:c.419C>T	XP_016855633.1:p.Ser140Leu
XR_002959248.1:n.1677+97C>T
XR_002959249.1:n.1309+97C>T
NM_053274.3:c.1190C>T MANE Select	NP_444504.1:p.Ser397Leu
NM_001319683.2:c.1148C>T	NP_001306612.1:p.Ser383Leu
NR_135089.2:n.1283C>T