Canonical Allele Identifier: CA10203135

Gene: LARGE1

Linked Data

• ClinVar Variation Id: 341437
• ClinVar RCV Id: RCV000344970 ; RCV000797194 ; RCV001579427 ; RCV002523216
• dbSNP Id: rs142135345
• ExAC: 22:34046583 G / A
• gnomAD v2: 22-34046583-G-A
• gnomAD v3: 22-33650597-G-A
• gnomAD v4: 22-33650597-G-A
• MyVariant Identifiers: chr22:g.34046583G>A (hg19) ; chr22:g.33650597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.33650597G>A , CM000684.2:g.33650597G>A	GRCh38
NC_000022.10:g.34046583G>A , CM000684.1:g.34046583G>A	GRCh37
NC_000022.9:g.32376583G>A	NCBI36
NG_009929.2:g.274832C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354992.7:c.178C>T	ENSP00000347088.2:p.Arg60Trp
ENST00000397394.8:c.178C>T MANE Select	ENSP00000380549.2:p.Arg60Trp
ENST00000402320.6:c.178C>T	ENSP00000385223.1:p.Arg60Trp
ENST00000413114.6:c.178C>T	ENSP00000415546.2:p.Arg60Trp
ENST00000423375.2:c.178C>T	ENSP00000406000.2:p.Arg60Trp
ENST00000430220.7:c.178C>T	ENSP00000396277.3:p.Arg60Trp
ENST00000432776.6:c.178C>T	ENSP00000411065.2:p.Arg60Trp
ENST00000434071.6:c.178C>T	ENSP00000389605.2:p.Arg60Trp
ENST00000476315.2:c.178C>T	ENSP00000502006.1:p.Arg60Trp
ENST00000608642.6:c.178C>T	ENSP00000476866.2:p.Arg60Trp
ENST00000609799.6:c.178C>T	ENSP00000476415.2:p.Arg60Trp
ENST00000610186.6:c.178C>T	ENSP00000476364.2:p.Arg60Trp
ENST00000674543.1:c.178C>T	ENSP00000501590.1:p.Arg60Trp
ENST00000674668.1:c.178C>T	ENSP00000502103.1:p.Arg60Trp
ENST00000674789.1:c.178C>T	ENSP00000501941.1:p.Arg60Trp
ENST00000674999.1:c.-27C>T	ENSP00000502711.1:n.-27C>T
ENST00000675277.1:c.-27C>T	ENSP00000502702.1:n.-27C>T
ENST00000675382.1:c.178C>T	ENSP00000501800.1:p.Arg60Trp
ENST00000675416.1:c.178C>T	ENSP00000502826.1:p.Arg60Trp
ENST00000676031.1:c.178C>T	ENSP00000501663.1:p.Arg60Trp
ENST00000676070.1:c.178C>T	ENSP00000502152.1:p.Arg60Trp
ENST00000676126.1:c.178C>T	ENSP00000501966.1:p.Arg60Trp
ENST00000676132.1:c.178C>T	ENSP00000501854.1:p.Arg60Trp
ENST00000676370.1:c.178C>T	ENSP00000502238.1:p.Arg60Trp
ENST00000354992.6:c.178C>T	ENSP00000347088.2:p.Arg60Trp
ENST00000397394.6:c.178C>T	ENSP00000380549.2:p.Arg60Trp
ENST00000402320.5:c.178C>T	ENSP00000385223.1:p.Arg60Trp
ENST00000413114.5:c.178C>T	ENSP00000415546.1:p.Arg60Trp
ENST00000430220.6:c.178C>T	ENSP00000396277.2:p.Arg60Trp
ENST00000432776.5:c.178C>T	ENSP00000411065.1:p.Arg60Trp
ENST00000434071.5:c.178C>T	ENSP00000389605.1:p.Arg60Trp
ENST00000462606.1:n.327C>T
ENST00000494763.1:n.380C>T
NM_004737.4:c.178C>T	NP_004728.1:p.Arg60Trp
NM_133642.3:c.178C>T	NP_598397.1:p.Arg60Trp
XM_005261831.2:c.178C>T	XP_005261888.1:p.Arg60Trp
XM_005261832.2:c.178C>T	XP_005261889.1:p.Arg60Trp
XM_011530510.1:c.178C>T	XP_011528812.1:p.Arg60Trp
XM_011530511.1:c.178C>T	XP_011528813.1:p.Arg60Trp
XM_011530514.1:c.178C>T	XP_011528816.1:p.Arg60Trp
NM_001362949.1:c.178C>T	NP_001349878.1:p.Arg60Trp
NM_001362951.1:c.178C>T	NP_001349880.1:p.Arg60Trp
NM_001362953.1:c.178C>T	NP_001349882.1:p.Arg60Trp
NM_004737.6:c.178C>T	NP_004728.1:p.Arg60Trp
NM_133642.4:c.178C>T	NP_598397.1:p.Arg60Trp
XM_005261831.3:c.178C>T	XP_005261888.1:p.Arg60Trp
XM_005261832.3:c.178C>T	XP_005261889.1:p.Arg60Trp
XM_024452302.1:c.178C>T	XP_024308070.1:p.Arg60Trp
XM_024452303.1:c.178C>T	XP_024308071.1:p.Arg60Trp
XR_002958722.1:n.225C>T
NM_001362949.2:c.178C>T	NP_001349878.1:p.Arg60Trp
NM_001362951.2:c.178C>T	NP_001349880.1:p.Arg60Trp
NM_001362953.2:c.178C>T	NP_001349882.1:p.Arg60Trp
NM_001378624.1:c.178C>T	NP_001365553.1:p.Arg60Trp
NM_001378625.1:c.178C>T	NP_001365554.1:p.Arg60Trp
NM_001378626.1:c.178C>T	NP_001365555.1:p.Arg60Trp
NM_001378627.1:c.178C>T	NP_001365556.1:p.Arg60Trp
NM_001378628.1:c.178C>T	NP_001365557.1:p.Arg60Trp
NM_001378629.1:c.178C>T	NP_001365558.1:p.Arg60Trp
NM_004737.7:c.178C>T	NP_004728.1:p.Arg60Trp
NM_133642.5:c.178C>T MANE Select	NP_598397.1:p.Arg60Trp