Canonical Allele Identifier: CA16621117

Gene: LARGE1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.33316193C>T , CM000684.2:g.33316193C>T	GRCh38
NC_000022.10:g.33712179C>T , CM000684.1:g.33712179C>T	GRCh37
NC_000022.9:g.32042179C>T	NCBI36
NG_009929.2:g.609236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354992.7:c.1343G>A	ENSP00000347088.2:p.Arg448Gln
ENST00000397394.8:c.1343G>A MANE Select	ENSP00000380549.2:p.Arg448Gln
ENST00000402320.6:c.1187G>A	ENSP00000385223.1:p.Arg396Gln
ENST00000413114.6:c.1343G>A	ENSP00000415546.2:p.Arg448Gln
ENST00000421768.2:c.*448G>A	ENSP00000403841.2:n.*448G>A
ENST00000608642.6:c.1343G>A	ENSP00000476866.2:p.Arg448Gln
ENST00000609799.6:c.1343G>A	ENSP00000476415.2:p.Arg448Gln
ENST00000610186.6:c.1343G>A	ENSP00000476364.2:p.Arg448Gln
ENST00000674543.1:c.1343G>A	ENSP00000501590.1:p.Arg448Gln
ENST00000674668.1:c.1217G>A	ENSP00000502103.1:p.Arg406Gln
ENST00000674708.1:n.1001G>A
ENST00000674780.1:c.740G>A	ENSP00000502772.1:p.Arg247Gln
ENST00000674789.1:c.1343G>A	ENSP00000501941.1:p.Arg448Gln
ENST00000674816.1:n.1151G>A
ENST00000674999.1:c.1139G>A	ENSP00000502711.1:p.Arg380Gln
ENST00000675277.1:c.1139G>A	ENSP00000502702.1:p.Arg380Gln
ENST00000675382.1:c.1288-11686G>A	ENSP00000501800.1:n.1288-11686G>A
ENST00000675416.1:c.1343G>A	ENSP00000502826.1:p.Arg448Gln
ENST00000676031.1:c.1343G>A	ENSP00000501663.1:p.Arg448Gln
ENST00000676070.1:c.1343G>A	ENSP00000502152.1:p.Arg448Gln
ENST00000676126.1:c.1343G>A	ENSP00000501966.1:p.Arg448Gln
ENST00000676132.1:c.1343G>A	ENSP00000501854.1:p.Arg448Gln
ENST00000676370.1:c.1343G>A	ENSP00000502238.1:p.Arg448Gln
ENST00000354992.6:c.1343G>A	ENSP00000347088.2:p.Arg448Gln
ENST00000397394.6:c.1343G>A	ENSP00000380549.2:p.Arg448Gln
ENST00000402320.5:c.1187G>A	ENSP00000385223.1:p.Arg396Gln
ENST00000608642.5:c.374G>A	ENSP00000476866.1:p.Arg125Gln
ENST00000609799.5:c.374G>A	ENSP00000476415.1:p.Arg125Gln
ENST00000610186.5:c.374G>A	ENSP00000476364.1:p.Arg125Gln
NM_004737.4:c.1343G>A	NP_004728.1:p.Arg448Gln
NM_133642.3:c.1343G>A	NP_598397.1:p.Arg448Gln
XM_005261831.2:c.1343G>A	XP_005261888.1:p.Arg448Gln
XM_005261832.2:c.1343G>A	XP_005261889.1:p.Arg448Gln
XM_011530510.1:c.1343G>A	XP_011528812.1:p.Arg448Gln
XM_011530511.1:c.1343G>A	XP_011528813.1:p.Arg448Gln
XM_011530512.1:c.740G>A	XP_011528814.1:p.Arg247Gln
XM_011530513.1:c.245G>A	XP_011528815.1:p.Arg82Gln
NM_001362949.1:c.1343G>A	NP_001349878.1:p.Arg448Gln
NM_001362951.1:c.1343G>A	NP_001349880.1:p.Arg448Gln
NM_001362953.1:c.1343G>A	NP_001349882.1:p.Arg448Gln
NM_004737.6:c.1343G>A	NP_004728.1:p.Arg448Gln
NM_133642.4:c.1343G>A	NP_598397.1:p.Arg448Gln
XM_005261831.3:c.1343G>A	XP_005261888.1:p.Arg448Gln
XM_005261832.3:c.1343G>A	XP_005261889.1:p.Arg448Gln
XM_011530512.2:c.740G>A	XP_011528814.1:p.Arg247Gln
XM_011530513.2:c.245G>A	XP_011528815.1:p.Arg82Gln
XM_024452302.1:c.1343G>A	XP_024308070.1:p.Arg448Gln
XR_002958722.1:n.1390G>A
NM_001362949.2:c.1343G>A	NP_001349878.1:p.Arg448Gln
NM_001362951.2:c.1343G>A	NP_001349880.1:p.Arg448Gln
NM_001362953.2:c.1343G>A	NP_001349882.1:p.Arg448Gln
NM_001378624.1:c.1343G>A	NP_001365553.1:p.Arg448Gln
NM_001378625.1:c.1343G>A	NP_001365554.1:p.Arg448Gln
NM_001378626.1:c.1343G>A	NP_001365555.1:p.Arg448Gln
NM_001378627.1:c.1343G>A	NP_001365556.1:p.Arg448Gln
NM_001378628.1:c.1343G>A	NP_001365557.1:p.Arg448Gln
NM_001378629.1:c.1187G>A	NP_001365558.1:p.Arg396Gln
NM_001378630.1:c.740G>A	NP_001365559.1:p.Arg247Gln
NM_001378631.1:c.584G>A	NP_001365560.1:p.Arg195Gln
NM_004737.7:c.1343G>A	NP_004728.1:p.Arg448Gln
NM_133642.5:c.1343G>A MANE Select	NP_598397.1:p.Arg448Gln