Canonical Allele Identifier: CA26744952

Gene: GLMN

Linked Data

• dbSNP Id: rs142836835
• COSMIC: COSM110002
• MyVariant Identifiers: chr1:g.92731981T>A (hg19) ; chr1:g.92266424T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266424T>A , CM000663.2:g.92266424T>A	GRCh38
NC_000001.10:g.92731981T>A , CM000663.1:g.92731981T>A	GRCh37
NC_000001.9:g.92504569T>A	NCBI36
NG_009796.1:g.37586A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1209A>T MANE Select	ENSP00000359385.3:p.Leu403Phe
ENST00000370360.7:c.1209A>T	ENSP00000359385.3:p.Leu403Phe
ENST00000463560.1:c.562+116A>T
ENST00000495106.5:c.1209A>T	ENSP00000436829.1:p.Leu403Phe
ENST00000495852.6:c.432A>T	ENSP00000469157.2:p.Leu144Phe
NM_053274.2:c.1209A>T	NP_444504.1:p.Leu403Phe
XM_005270400.1:c.1167A>T	XP_005270457.1:p.Leu389Phe
XM_005270401.2:c.1083A>T	XP_005270458.1:p.Leu361Phe
XM_006710309.1:c.708A>T	XP_006710372.1:p.Leu236Phe
XM_011540544.1:c.1209A>T	XP_011538846.1:p.Leu403Phe
XM_011540545.1:c.1209A>T	XP_011538847.1:p.Leu403Phe
XM_011540546.1:c.1209A>T	XP_011538848.1:p.Leu403Phe
XR_946529.1:n.1309+116A>T
NM_001319683.1:c.1167A>T	NP_001306612.1:p.Leu389Phe
NR_135089.1:n.1324A>T
XM_005270401.3:c.1083A>T	XP_005270458.1:p.Leu361Phe
XM_006710309.2:c.708A>T	XP_006710372.1:p.Leu236Phe
XM_011540546.2:c.1209A>T	XP_011538848.1:p.Leu403Phe
XM_017000137.1:c.1308A>T	XP_016855626.1:p.Leu436Phe
XM_017000138.1:c.1266A>T	XP_016855627.1:p.Leu422Phe
XM_017000139.1:c.1293+116A>T	XP_016855628.1:n.1293+116A>T
XM_017000140.1:c.1182A>T	XP_016855629.1:p.Leu394Phe
XM_017000141.1:c.1194+116A>T	XP_016855630.1:n.1194+116A>T
XM_017000142.1:c.666A>T	XP_016855631.1:p.Leu222Phe
XM_017000143.1:c.666A>T	XP_016855632.1:p.Leu222Phe
XM_017000144.1:c.438A>T	XP_016855633.1:p.Leu146Phe
XR_002959248.1:n.1677+116A>T
XR_002959249.1:n.1309+116A>T
NM_053274.3:c.1209A>T MANE Select	NP_444504.1:p.Leu403Phe
NM_001319683.2:c.1167A>T	NP_001306612.1:p.Leu389Phe
NR_135089.2:n.1302A>T