Canonical Allele Identifier: CA1637950

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1452329
• ClinVar RCV Id: RCV001999752 ; RCV003471129
• dbSNP Id: rs761052211
• ExAC: 2:44126409 G / GA
• gnomAD v2: 2-44126409-G-GA
• gnomAD v3: 2-43899270-G-GA
• gnomAD v4: 2-43899270-G-GA
• MyVariant Identifiers: chr2:g.44126409_44126410insA (hg19) ; chr2:g.43899270_43899271insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899276dup , CM000664.2:g.43899276dup	GRCh38
NC_000002.11:g.44126415dup , CM000664.1:g.44126415dup	GRCh37
NC_000002.10:g.43979919dup	NCBI36
NG_008247.1:g.101735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.204dup
ENST00000472420.6:n.852dup
ENST00000483489.2:n.204dup
ENST00000681993.1:n.1325dup
ENST00000682303.1:c.*3559dup	ENSP00000508325.1:n.*3559dup
ENST00000682308.1:c.3773dup	ENSP00000507056.1:p.Leu1259ProfsTer11
ENST00000682434.1:n.1324dup
ENST00000682480.1:c.3791dup	ENSP00000508344.1:p.Leu1265ProfsTer11
ENST00000682546.1:c.3770dup	ENSP00000508188.1:p.Leu1258ProfsTer11
ENST00000682585.1:c.3773dup	ENSP00000506885.1:p.Leu1259ProfsTer11
ENST00000682595.1:n.4357dup
ENST00000682607.1:c.2191dup
ENST00000682612.1:c.625dup
ENST00000682779.1:c.3764dup	ENSP00000507947.1:p.Leu1256ProfsTer11
ENST00000682845.1:n.2875dup
ENST00000682885.1:c.3728dup	ENSP00000508036.1:p.Leu1244ProfsTer11
ENST00000682933.1:n.3847dup
ENST00000683002.1:c.625dup
ENST00000683072.1:n.4357dup
ENST00000683080.1:n.1392dup
ENST00000683125.1:c.3881dup	ENSP00000507939.1:p.Leu1295ProfsTer11
ENST00000683213.1:c.3776dup	ENSP00000507751.1:p.Leu1260ProfsTer11
ENST00000683220.1:c.3803dup	ENSP00000507151.1:p.Leu1269ProfsTer11
ENST00000683329.1:n.4576dup
ENST00000683346.1:c.*3648dup	ENSP00000507458.1:n.*3648dup
ENST00000683409.1:n.2380dup
ENST00000683459.1:n.4360dup
ENST00000683528.1:c.701dup
ENST00000683590.1:c.3521dup	ENSP00000506820.1:p.Leu1175ProfsTer11
ENST00000683623.1:c.3680dup	ENSP00000507702.1:p.Leu1228ProfsTer11
ENST00000683645.1:n.4324dup
ENST00000683796.1:c.*3645dup	ENSP00000508221.1:n.*3645dup
ENST00000683802.1:n.6698dup
ENST00000683833.1:c.3764dup	ENSP00000506852.1:p.Leu1256ProfsTer11
ENST00000683994.1:c.3773dup	ENSP00000507181.1:p.Leu1259ProfsTer11
ENST00000684290.1:c.*1309dup	ENSP00000507243.1:n.*1309dup
ENST00000684306.1:c.*3686dup	ENSP00000508384.1:n.*3686dup
ENST00000684341.1:n.3793dup
ENST00000684383.1:c.*3411dup	ENSP00000506863.1:n.*3411dup
ENST00000684418.1:n.4954dup
ENST00000684433.1:n.157dup
ENST00000684454.1:n.3123dup
ENST00000684619.1:c.*3645dup	ENSP00000508088.1:n.*3645dup
ENST00000684743.1:n.6518dup
ENST00000260665.12:c.3773dup MANE Select	ENSP00000260665.7:p.Leu1259ProfsTer11
ENST00000260665.11:c.3773dup	ENSP00000260665.7:p.Leu1259ProfsTer11
ENST00000419884.5:c.14dup	ENSP00000414207.1:p.Leu6ProfsTer11
ENST00000463456.5:n.2816dup
ENST00000472420.5:n.170dup
ENST00000483489.1:n.247dup
NM_133259.3:c.3773dup	NP_573566.2:p.Leu1259ProfsTer11
XM_006711915.2:c.3695dup	XP_006711978.1:p.Leu1233ProfsTer11
XM_011532473.1:c.3773dup	XP_011530775.1:p.Leu1259ProfsTer11
XM_011532474.1:c.3773dup	XP_011530776.1:p.Leu1259ProfsTer11
XM_017003117.1:c.3695dup	XP_016858606.1:p.Leu1233ProfsTer11
XR_002958896.1:n.3815dup
NM_133259.4:c.3773dup MANE Select	NP_573566.2:p.Leu1259ProfsTer11