Canonical Allele Identifier: CA341099692

Gene: GLMN

Linked Data

• dbSNP Id: rs1315242950
• gnomAD v2: 1-92732015-A-G
• gnomAD v4: 1-92266458-A-G
• MyVariant Identifiers: chr1:g.92732015A>G (hg19) ; chr1:g.92266458A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266458A>G , CM000663.2:g.92266458A>G	GRCh38
NC_000001.10:g.92732015A>G , CM000663.1:g.92732015A>G	GRCh37
NC_000001.9:g.92504603A>G	NCBI36
NG_009796.1:g.37552T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1175T>C MANE Select	ENSP00000359385.3:p.Ile392Thr
ENST00000370360.7:c.1175T>C	ENSP00000359385.3:p.Ile392Thr
ENST00000463560.1:c.562+82T>C
ENST00000495106.5:c.1175T>C	ENSP00000436829.1:p.Ile392Thr
ENST00000495852.6:c.398T>C	ENSP00000469157.2:p.Ile133Thr
NM_053274.2:c.1175T>C	NP_444504.1:p.Ile392Thr
XM_005270400.1:c.1133T>C	XP_005270457.1:p.Ile378Thr
XM_005270401.2:c.1049T>C	XP_005270458.1:p.Ile350Thr
XM_006710309.1:c.674T>C	XP_006710372.1:p.Ile225Thr
XM_011540544.1:c.1175T>C	XP_011538846.1:p.Ile392Thr
XM_011540545.1:c.1175T>C	XP_011538847.1:p.Ile392Thr
XM_011540546.1:c.1175T>C	XP_011538848.1:p.Ile392Thr
XR_946529.1:n.1309+82T>C
NM_001319683.1:c.1133T>C	NP_001306612.1:p.Ile378Thr
NR_135089.1:n.1290T>C
XM_005270401.3:c.1049T>C	XP_005270458.1:p.Ile350Thr
XM_006710309.2:c.674T>C	XP_006710372.1:p.Ile225Thr
XM_011540546.2:c.1175T>C	XP_011538848.1:p.Ile392Thr
XM_017000137.1:c.1274T>C	XP_016855626.1:p.Ile425Thr
XM_017000138.1:c.1232T>C	XP_016855627.1:p.Ile411Thr
XM_017000139.1:c.1293+82T>C	XP_016855628.1:n.1293+82T>C
XM_017000140.1:c.1148T>C	XP_016855629.1:p.Ile383Thr
XM_017000141.1:c.1194+82T>C	XP_016855630.1:n.1194+82T>C
XM_017000142.1:c.632T>C	XP_016855631.1:p.Ile211Thr
XM_017000143.1:c.632T>C	XP_016855632.1:p.Ile211Thr
XM_017000144.1:c.404T>C	XP_016855633.1:p.Ile135Thr
XR_002959248.1:n.1677+82T>C
XR_002959249.1:n.1309+82T>C
NM_053274.3:c.1175T>C MANE Select	NP_444504.1:p.Ile392Thr
NM_001319683.2:c.1133T>C	NP_001306612.1:p.Ile378Thr
NR_135089.2:n.1268T>C