Canonical Allele Identifier: CA10587373

Gene: LARGE1

Linked Data

• ClinVar Variation Id: 259530
• ClinVar RCV Id: RCV000245884 ; RCV000726777 ; RCV001087615
• dbSNP Id: rs372629986
• gnomAD v2: 22-33700334-C-T
• gnomAD v3: 22-33304348-C-T
• gnomAD v4: 22-33304348-C-T
• MyVariant Identifiers: chr22:g.33700334C>T (hg19) ; chr22:g.33304348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.33304348C>T , CM000684.2:g.33304348C>T	GRCh38
NC_000022.10:g.33700334C>T , CM000684.1:g.33700334C>T	GRCh37
NC_000022.9:g.32030334C>T	NCBI36
NG_009929.2:g.621081G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354992.7:c.1611G>A	ENSP00000347088.2:p.Glu537=
ENST00000397394.8:c.1611G>A MANE Select	ENSP00000380549.2:p.Glu537=
ENST00000402320.6:c.1455G>A	ENSP00000385223.1:p.Glu485=
ENST00000413114.6:c.1611G>A	ENSP00000415546.2:p.Glu537=
ENST00000608642.6:c.1611G>A	ENSP00000476866.2:p.Glu537=
ENST00000609799.6:c.1451+11737G>A	ENSP00000476415.2:n.1451+11737G>A
ENST00000610186.6:c.1611G>A	ENSP00000476364.2:p.Glu537=
ENST00000674543.1:c.1611G>A	ENSP00000501590.1:p.Glu537=
ENST00000674668.1:c.1485G>A	ENSP00000502103.1:p.Glu495=
ENST00000674708.1:n.1269G>A
ENST00000674780.1:c.1008G>A	ENSP00000502772.1:p.Glu336=
ENST00000674789.1:c.1611G>A	ENSP00000501941.1:p.Glu537=
ENST00000674816.1:n.1419G>A
ENST00000674999.1:c.1407G>A	ENSP00000502711.1:p.Glu469=
ENST00000675277.1:c.1407G>A	ENSP00000502702.1:p.Glu469=
ENST00000675382.1:c.*49G>A	ENSP00000501800.1:n.*49G>A
ENST00000675416.1:c.1611G>A	ENSP00000502826.1:p.Glu537=
ENST00000676031.1:c.*193G>A	ENSP00000501663.1:n.*193G>A
ENST00000676070.1:c.1611G>A	ENSP00000502152.1:p.Glu537=
ENST00000676126.1:c.1451+11737G>A	ENSP00000501966.1:n.1451+11737G>A
ENST00000676132.1:c.1611G>A	ENSP00000501854.1:p.Glu537=
ENST00000676370.1:c.1611G>A	ENSP00000502238.1:p.Glu537=
ENST00000354992.6:c.1611G>A	ENSP00000347088.2:p.Glu537=
ENST00000397394.6:c.1611G>A	ENSP00000380549.2:p.Glu537=
ENST00000402320.5:c.1455G>A	ENSP00000385223.1:p.Glu485=
ENST00000608642.5:c.642G>A	ENSP00000476866.1:p.Glu214=
ENST00000609799.5:c.482+11737G>A	ENSP00000476415.1:n.482+11737G>A
ENST00000610186.5:c.642G>A	ENSP00000476364.1:p.Glu214=
NM_004737.4:c.1611G>A	NP_004728.1:p.Glu537=
NM_133642.3:c.1611G>A	NP_598397.1:p.Glu537=
XM_005261831.2:c.1611G>A	XP_005261888.1:p.Glu537=
XM_005261832.2:c.1611G>A	XP_005261889.1:p.Glu537=
XM_011530510.1:c.1611G>A	XP_011528812.1:p.Glu537=
XM_011530511.1:c.1451+11737G>A	XP_011528813.1:n.1451+11737G>A
XM_011530512.1:c.1008G>A	XP_011528814.1:p.Glu336=
XM_011530513.1:c.513G>A	XP_011528815.1:p.Glu171=
NM_001362949.1:c.1611G>A	NP_001349878.1:p.Glu537=
NM_001362951.1:c.1611G>A	NP_001349880.1:p.Glu537=
NM_001362953.1:c.1611G>A	NP_001349882.1:p.Glu537=
NM_004737.6:c.1611G>A	NP_004728.1:p.Glu537=
NM_133642.4:c.1611G>A	NP_598397.1:p.Glu537=
XM_005261831.3:c.1611G>A	XP_005261888.1:p.Glu537=
XM_005261832.3:c.1611G>A	XP_005261889.1:p.Glu537=
XM_011530512.2:c.1008G>A	XP_011528814.1:p.Glu336=
XM_011530513.2:c.513G>A	XP_011528815.1:p.Glu171=
XM_024452302.1:c.1611G>A	XP_024308070.1:p.Glu537=
XR_002958722.1:n.1658G>A
NM_001362949.2:c.1611G>A	NP_001349878.1:p.Glu537=
NM_001362951.2:c.1611G>A	NP_001349880.1:p.Glu537=
NM_001362953.2:c.1611G>A	NP_001349882.1:p.Glu537=
NM_001378624.1:c.1611G>A	NP_001365553.1:p.Glu537=
NM_001378625.1:c.1611G>A	NP_001365554.1:p.Glu537=
NM_001378626.1:c.1611G>A	NP_001365555.1:p.Glu537=
NM_001378627.1:c.1611G>A	NP_001365556.1:p.Glu537=
NM_001378628.1:c.1611G>A	NP_001365557.1:p.Glu537=
NM_001378629.1:c.1455G>A	NP_001365558.1:p.Glu485=
NM_001378630.1:c.1008G>A	NP_001365559.1:p.Glu336=
NM_001378631.1:c.852G>A	NP_001365560.1:p.Glu284=
NM_004737.7:c.1611G>A	NP_004728.1:p.Glu537=
NM_133642.5:c.1611G>A MANE Select	NP_598397.1:p.Glu537=