Canonical Allele Identifier: CA285636

Gene: LARGE1

Linked Data

• ClinVar Variation Id: 95172
• ClinVar RCV Id: RCV000081178 ; RCV000351281 ; RCV000525859
• dbSNP Id: rs17722172
• ExAC: 22:33670584 G / A
• gnomAD v2: 22-33670584-G-A
• gnomAD v3: 22-33274598-G-A
• gnomAD v4: 22-33274598-G-A
• MyVariant Identifiers: chr22:g.33670584G>A (hg19) ; chr22:g.33274598G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.33274598G>A , CM000684.2:g.33274598G>A	GRCh38
NC_000022.10:g.33670584G>A , CM000684.1:g.33670584G>A	GRCh37
NC_000022.9:g.32000584G>A	NCBI36
NG_009929.2:g.650831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354992.7:c.2100C>T	ENSP00000347088.2:p.Asn700=
ENST00000397394.8:c.2100C>T MANE Select	ENSP00000380549.2:p.Asn700=
ENST00000402320.6:c.1944C>T	ENSP00000385223.1:p.Asn648=
ENST00000413114.6:c.2100C>T	ENSP00000415546.2:p.Asn700=
ENST00000608642.6:c.1730+29631C>T	ENSP00000476866.2:n.1730+29631C>T
ENST00000609799.6:c.1451+41487C>T	ENSP00000476415.2:n.1451+41487C>T
ENST00000610186.6:c.1877+8604C>T	ENSP00000476364.2:n.1877+8604C>T
ENST00000674543.1:c.*1541C>T	ENSP00000501590.1:n.*1541C>T
ENST00000674668.1:c.1974C>T	ENSP00000502103.1:p.Asn658=
ENST00000674708.1:n.1758C>T
ENST00000674780.1:c.1497C>T	ENSP00000502772.1:p.Asn499=
ENST00000674789.1:c.1953C>T	ENSP00000501941.1:p.Asn651=
ENST00000674816.1:n.1908C>T
ENST00000674999.1:c.1896C>T	ENSP00000502711.1:p.Asn632=
ENST00000675277.1:c.1896C>T	ENSP00000502702.1:p.Asn632=
ENST00000675382.1:c.*538C>T	ENSP00000501800.1:n.*538C>T
ENST00000675416.1:c.2100C>T	ENSP00000502826.1:p.Asn700=
ENST00000676031.1:c.*682C>T	ENSP00000501663.1:n.*682C>T
ENST00000676070.1:c.2100C>T	ENSP00000502152.1:p.Asn700=
ENST00000676126.1:c.1821C>T	ENSP00000501966.1:p.Asn607=
ENST00000676132.1:c.2100C>T	ENSP00000501854.1:p.Asn700=
ENST00000676370.1:c.2100C>T	ENSP00000502238.1:p.Asn700=
ENST00000354992.6:c.2100C>T	ENSP00000347088.2:p.Asn700=
ENST00000397394.6:c.2100C>T	ENSP00000380549.2:p.Asn700=
ENST00000402320.5:c.1944C>T	ENSP00000385223.1:p.Asn648=
ENST00000608642.5:c.761+29631C>T	ENSP00000476866.1:n.761+29631C>T
ENST00000609799.5:c.482+41487C>T	ENSP00000476415.1:n.482+41487C>T
ENST00000610186.5:c.908+8604C>T	ENSP00000476364.1:n.908+8604C>T
NM_004737.4:c.2100C>T	NP_004728.1:p.Asn700=
NM_133642.3:c.2100C>T	NP_598397.1:p.Asn700=
XM_005261831.2:c.2100C>T	XP_005261888.1:p.Asn700=
XM_005261832.2:c.2100C>T	XP_005261889.1:p.Asn700=
XM_011530510.1:c.2100C>T	XP_011528812.1:p.Asn700=
XM_011530511.1:c.1821C>T	XP_011528813.1:p.Asn607=
XM_011530512.1:c.1497C>T	XP_011528814.1:p.Asn499=
XM_011530513.1:c.1002C>T	XP_011528815.1:p.Asn334=
NM_001362949.1:c.2100C>T	NP_001349878.1:p.Asn700=
NM_001362951.1:c.2100C>T	NP_001349880.1:p.Asn700=
NM_001362953.1:c.2100C>T	NP_001349882.1:p.Asn700=
NM_004737.6:c.2100C>T	NP_004728.1:p.Asn700=
NM_133642.4:c.2100C>T	NP_598397.1:p.Asn700=
XM_005261831.3:c.2100C>T	XP_005261888.1:p.Asn700=
XM_005261832.3:c.2100C>T	XP_005261889.1:p.Asn700=
XM_011530512.2:c.1497C>T	XP_011528814.1:p.Asn499=
XM_011530513.2:c.1002C>T	XP_011528815.1:p.Asn334=
XM_024452302.1:c.1877+8604C>T	XP_024308070.1:n.1877+8604C>T
XR_002958722.1:n.1924+8604C>T
NM_001362949.2:c.2100C>T	NP_001349878.1:p.Asn700=
NM_001362951.2:c.2100C>T	NP_001349880.1:p.Asn700=
NM_001362953.2:c.2100C>T	NP_001349882.1:p.Asn700=
NM_001378624.1:c.2100C>T	NP_001365553.1:p.Asn700=
NM_001378625.1:c.2100C>T	NP_001365554.1:p.Asn700=
NM_001378626.1:c.2100C>T	NP_001365555.1:p.Asn700=
NM_001378627.1:c.1953C>T	NP_001365556.1:p.Asn651=
NM_001378628.1:c.1953C>T	NP_001365557.1:p.Asn651=
NM_001378629.1:c.1944C>T	NP_001365558.1:p.Asn648=
NM_001378630.1:c.1497C>T	NP_001365559.1:p.Asn499=
NM_001378631.1:c.1194C>T	NP_001365560.1:p.Asn398=
NM_004737.7:c.2100C>T	NP_004728.1:p.Asn700=
NM_133642.5:c.2100C>T MANE Select	NP_598397.1:p.Asn700=