Canonical Allele Identifier: CA1638541

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 336155
• ClinVar RCV Id: RCV000396384
• dbSNP Id: rs187274438
• ExAC: 2:44172551 C / T
• gnomAD v2: 2-44172551-C-T
• gnomAD v3: 2-43945412-C-T
• gnomAD v4: 2-43945412-C-T
• MyVariant Identifiers: chr2:g.44172551C>T (hg19) ; chr2:g.43945412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945412C>T , CM000664.2:g.43945412C>T	GRCh38
NC_000002.11:g.44172551C>T , CM000664.1:g.44172551C>T	GRCh37
NC_000002.10:g.44026055C>T	NCBI36
NG_008247.1:g.55594G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2216G>A	ENSP00000386562.2:p.Arg739His
ENST00000447246.2:c.2216G>A	ENSP00000403637.2:p.Arg739His
ENST00000681961.1:n.2236G>A
ENST00000682104.1:c.2090G>A	ENSP00000507716.1:p.Arg697His
ENST00000682303.1:c.*2082+701G>A	ENSP00000508325.1:n.*2082+701G>A
ENST00000682308.1:c.2216G>A	ENSP00000507056.1:p.Arg739His
ENST00000682480.1:c.2216G>A	ENSP00000508344.1:p.Arg739His
ENST00000682546.1:c.2213G>A	ENSP00000508188.1:p.Arg738His
ENST00000682585.1:c.2216G>A	ENSP00000506885.1:p.Arg739His
ENST00000682595.1:n.2798G>A
ENST00000682607.1:c.634G>A
ENST00000682779.1:c.2207G>A	ENSP00000507947.1:p.Arg736His
ENST00000682885.1:c.2171G>A	ENSP00000508036.1:p.Arg724His
ENST00000682933.1:n.2290G>A
ENST00000683072.1:n.2798G>A
ENST00000683125.1:c.2216G>A	ENSP00000507939.1:p.Arg739His
ENST00000683213.1:c.2219G>A	ENSP00000507751.1:p.Arg740His
ENST00000683220.1:c.2246G>A	ENSP00000507151.1:p.Arg749His
ENST00000683329.1:n.3019G>A
ENST00000683346.1:c.*2091G>A	ENSP00000507458.1:n.*2091G>A
ENST00000683459.1:n.2803G>A
ENST00000683590.1:c.2216G>A	ENSP00000506820.1:p.Arg739His
ENST00000683623.1:c.2216G>A	ENSP00000507702.1:p.Arg739His
ENST00000683645.1:n.2767G>A
ENST00000683694.1:n.967G>A
ENST00000683796.1:c.*2088G>A	ENSP00000508221.1:n.*2088G>A
ENST00000683802.1:n.5141G>A
ENST00000683833.1:c.2207G>A	ENSP00000506852.1:p.Arg736His
ENST00000683934.1:c.2102G>A
ENST00000683989.1:c.2216G>A	ENSP00000507510.1:p.Arg739His
ENST00000683994.1:c.2216G>A	ENSP00000507181.1:p.Arg739His
ENST00000684290.1:c.2210+701G>A	ENSP00000507243.1:n.2210+701G>A
ENST00000684306.1:c.*2129G>A	ENSP00000508384.1:n.*2129G>A
ENST00000684341.1:n.2236G>A
ENST00000684383.1:c.*1854G>A	ENSP00000506863.1:n.*1854G>A
ENST00000684619.1:c.*2088G>A	ENSP00000508088.1:n.*2088G>A
ENST00000684743.1:n.3247G>A
ENST00000260665.12:c.2216G>A MANE Select	ENSP00000260665.7:p.Arg739His
ENST00000260665.11:c.2216G>A	ENSP00000260665.7:p.Arg739His
NM_133259.3:c.2216G>A	NP_573566.2:p.Arg739His
XM_006711915.2:c.2138G>A	XP_006711978.1:p.Arg713His
XM_006711916.2:c.2216G>A	XP_006711979.1:p.Arg739His
XM_011532473.1:c.2216G>A	XP_011530775.1:p.Arg739His
XM_011532474.1:c.2216G>A	XP_011530776.1:p.Arg739His
XM_006711916.3:c.2216G>A	XP_006711979.1:p.Arg739His
XM_017003117.1:c.2138G>A	XP_016858606.1:p.Arg713His
XR_002958896.1:n.2258G>A
NM_133259.4:c.2216G>A MANE Select	NP_573566.2:p.Arg739His