Canonical Allele Identifier: CA2580066481

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2005776
• ClinVar RCV Id: RCV002825469

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918382_43918383insAT , CM000664.2:g.43918382_43918383insAT	GRCh38
NC_000002.11:g.44145521_44145522insAT , CM000664.1:g.44145521_44145522insAT	GRCh37
NC_000002.10:g.43999025_43999026insAT	NCBI36
NG_008247.1:g.82623_82624insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.464_465insAT
ENST00000682295.1:c.176_177insAT	ENSP00000507499.1:p.Trp59Ter
ENST00000682303.1:c.*2698_*2699insAT	ENSP00000508325.1:n.*2698_*2699insAT
ENST00000682308.1:c.2912_2913insAT	ENSP00000507056.1:p.Trp971Ter
ENST00000682480.1:c.2912_2913insAT	ENSP00000508344.1:p.Trp971Ter
ENST00000682546.1:c.2909_2910insAT	ENSP00000508188.1:p.Trp970Ter
ENST00000682585.1:c.2912_2913insAT	ENSP00000506885.1:p.Trp971Ter
ENST00000682595.1:n.3496_3497insAT
ENST00000682607.1:c.1330_1331insAT
ENST00000682779.1:c.2903_2904insAT	ENSP00000507947.1:p.Trp968Ter
ENST00000682845.1:n.2014_2015insAT
ENST00000682885.1:c.2867_2868insAT	ENSP00000508036.1:p.Trp956Ter
ENST00000682933.1:n.2986_2987insAT
ENST00000683072.1:n.3496_3497insAT
ENST00000683080.1:n.531_532insAT
ENST00000683125.1:c.3020_3021insAT	ENSP00000507939.1:p.Trp1007Ter
ENST00000683213.1:c.2915_2916insAT	ENSP00000507751.1:p.Trp972Ter
ENST00000683220.1:c.2942_2943insAT	ENSP00000507151.1:p.Trp981Ter
ENST00000683236.1:c.242_243insAT	ENSP00000506891.1:n.242_243insAT
ENST00000683329.1:n.3715_3716insAT
ENST00000683346.1:c.*2787_*2788insAT	ENSP00000507458.1:n.*2787_*2788insAT
ENST00000683409.1:n.1519_1520insAT
ENST00000683459.1:n.3499_3500insAT
ENST00000683590.1:c.2897-5825_2897-5824insAT	ENSP00000506820.1:n.2897-5825_2897-5824insAT
ENST00000683623.1:c.2819_2820insAT	ENSP00000507702.1:p.Trp940Ter
ENST00000683645.1:n.3463_3464insAT
ENST00000683796.1:c.*2784_*2785insAT	ENSP00000508221.1:n.*2784_*2785insAT
ENST00000683802.1:n.5837_5838insAT
ENST00000683833.1:c.2903_2904insAT	ENSP00000506852.1:p.Trp968Ter
ENST00000683994.1:c.2912_2913insAT	ENSP00000507181.1:p.Trp971Ter
ENST00000684290.1:c.*448_*449insAT	ENSP00000507243.1:n.*448_*449insAT
ENST00000684306.1:c.*2825_*2826insAT	ENSP00000508384.1:n.*2825_*2826insAT
ENST00000684341.1:n.2932_2933insAT
ENST00000684383.1:c.*2550_*2551insAT	ENSP00000506863.1:n.*2550_*2551insAT
ENST00000684619.1:c.*2784_*2785insAT	ENSP00000508088.1:n.*2784_*2785insAT
ENST00000684705.1:n.33_34insAT
ENST00000684743.1:n.3943_3944insAT
ENST00000260665.12:c.2912_2913insAT MANE Select	ENSP00000260665.7:p.Trp971Ter
ENST00000260665.11:c.2912_2913insAT	ENSP00000260665.7:p.Trp971Ter
NM_133259.3:c.2912_2913insAT	NP_573566.2:p.Trp971Ter
XM_006711915.2:c.2834_2835insAT	XP_006711978.1:p.Trp945Ter
XM_006711916.2:c.2912_2913insAT	XP_006711979.1:p.Trp971Ter
XM_011532473.1:c.2912_2913insAT	XP_011530775.1:p.Trp971Ter
XM_011532474.1:c.2912_2913insAT	XP_011530776.1:p.Trp971Ter
XM_006711916.3:c.2912_2913insAT	XP_006711979.1:p.Trp971Ter
XM_017003117.1:c.2834_2835insAT	XP_016858606.1:p.Trp945Ter
XR_002958896.1:n.2954_2955insAT
NM_133259.4:c.2912_2913insAT MANE Select	NP_573566.2:p.Trp971Ter