Canonical Allele Identifier: CA1638260

Gene: LRPPRC

Linked Data

• dbSNP Id: rs750568618
• ExAC: 2:44145527 A / AC
• gnomAD v2: 2-44145527-A-AC
• gnomAD v3: 2-43918388-A-AC
• gnomAD v4: 2-43918388-A-AC
• MyVariant Identifiers: chr2:g.44145527_44145528insC (hg19) ; chr2:g.43918388_43918389insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918390dup , CM000664.2:g.43918390dup	GRCh38
NC_000002.11:g.44145529dup , CM000664.1:g.44145529dup	GRCh37
NC_000002.10:g.43999033dup	NCBI36
NG_008247.1:g.82617dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.458dup
ENST00000682295.1:c.170dup	ENSP00000507499.1:p.Asp58Ter
ENST00000682303.1:c.*2692dup	ENSP00000508325.1:n.*2692dup
ENST00000682308.1:c.2906dup	ENSP00000507056.1:p.Asp970Ter
ENST00000682480.1:c.2906dup	ENSP00000508344.1:p.Asp970Ter
ENST00000682546.1:c.2903dup	ENSP00000508188.1:p.Asp969Ter
ENST00000682585.1:c.2906dup	ENSP00000506885.1:p.Asp970Ter
ENST00000682595.1:n.3490dup
ENST00000682607.1:c.1324dup
ENST00000682779.1:c.2897dup	ENSP00000507947.1:p.Asp967Ter
ENST00000682845.1:n.2008dup
ENST00000682885.1:c.2861dup	ENSP00000508036.1:p.Asp955Ter
ENST00000682933.1:n.2980dup
ENST00000683072.1:n.3490dup
ENST00000683080.1:n.525dup
ENST00000683125.1:c.3014dup	ENSP00000507939.1:p.Asp1006Ter
ENST00000683213.1:c.2909dup	ENSP00000507751.1:p.Asp971Ter
ENST00000683220.1:c.2936dup	ENSP00000507151.1:p.Asp980Ter
ENST00000683236.1:c.236dup	ENSP00000506891.1:n.236dup
ENST00000683329.1:n.3709dup
ENST00000683346.1:c.*2781dup	ENSP00000507458.1:n.*2781dup
ENST00000683409.1:n.1513dup
ENST00000683459.1:n.3493dup
ENST00000683590.1:c.2897-5831dup	ENSP00000506820.1:n.2897-5831dup
ENST00000683623.1:c.2813dup	ENSP00000507702.1:p.Asp939Ter
ENST00000683645.1:n.3457dup
ENST00000683796.1:c.*2778dup	ENSP00000508221.1:n.*2778dup
ENST00000683802.1:n.5831dup
ENST00000683833.1:c.2897dup	ENSP00000506852.1:p.Asp967Ter
ENST00000683994.1:c.2906dup	ENSP00000507181.1:p.Asp970Ter
ENST00000684290.1:c.*442dup	ENSP00000507243.1:n.*442dup
ENST00000684306.1:c.*2819dup	ENSP00000508384.1:n.*2819dup
ENST00000684341.1:n.2926dup
ENST00000684383.1:c.*2544dup	ENSP00000506863.1:n.*2544dup
ENST00000684619.1:c.*2778dup	ENSP00000508088.1:n.*2778dup
ENST00000684705.1:n.27dup
ENST00000684743.1:n.3937dup
ENST00000260665.12:c.2906dup MANE Select	ENSP00000260665.7:p.Asp970Ter
ENST00000260665.11:c.2906dup	ENSP00000260665.7:p.Asp970Ter
NM_133259.3:c.2906dup	NP_573566.2:p.Asp970Ter
XM_006711915.2:c.2828dup	XP_006711978.1:p.Asp944Ter
XM_006711916.2:c.2906dup	XP_006711979.1:p.Asp970Ter
XM_011532473.1:c.2906dup	XP_011530775.1:p.Asp970Ter
XM_011532474.1:c.2906dup	XP_011530776.1:p.Asp970Ter
XM_006711916.3:c.2906dup	XP_006711979.1:p.Asp970Ter
XM_017003117.1:c.2828dup	XP_016858606.1:p.Asp944Ter
XR_002958896.1:n.2948dup
NM_133259.4:c.2906dup MANE Select	NP_573566.2:p.Asp970Ter