Canonical Allele Identifier: CA2658834518

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899450-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899450C>G , CM000664.2:g.43899450C>G	GRCh38
NC_000002.11:g.44126589C>G , CM000664.1:g.44126589C>G	GRCh37
NC_000002.10:g.43980093C>G	NCBI36
NG_008247.1:g.101556G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000419884.6:c.140+16G>C
ENST00000472420.6:n.788+16G>C
ENST00000483489.2:n.140+16G>C
ENST00000681993.1:n.1261+16G>C
ENST00000682303.1:c.*3495+16G>C	ENSP00000508325.1:n.*3495+16G>C
ENST00000682308.1:c.3709+16G>C	ENSP00000507056.1:n.3709+16G>C
ENST00000682434.1:n.1260+16G>C
ENST00000682480.1:c.3727+16G>C	ENSP00000508344.1:n.3727+16G>C
ENST00000682546.1:c.3706+16G>C	ENSP00000508188.1:n.3706+16G>C
ENST00000682585.1:c.3709+16G>C	ENSP00000506885.1:n.3709+16G>C
ENST00000682595.1:n.4293+16G>C
ENST00000682607.1:c.2127+16G>C
ENST00000682612.1:c.561+16G>C
ENST00000682779.1:c.3700+16G>C	ENSP00000507947.1:n.3700+16G>C
ENST00000682845.1:n.2811+16G>C
ENST00000682885.1:c.3664+16G>C	ENSP00000508036.1:n.3664+16G>C
ENST00000682933.1:n.3783+16G>C
ENST00000683002.1:c.561+16G>C
ENST00000683072.1:n.4293+16G>C
ENST00000683080.1:n.1328+16G>C
ENST00000683125.1:c.3817+16G>C	ENSP00000507939.1:n.3817+16G>C
ENST00000683213.1:c.3712+16G>C	ENSP00000507751.1:n.3712+16G>C
ENST00000683220.1:c.3739+16G>C	ENSP00000507151.1:n.3739+16G>C
ENST00000683329.1:n.4512+16G>C
ENST00000683346.1:c.*3584+16G>C	ENSP00000507458.1:n.*3584+16G>C
ENST00000683409.1:n.2316+16G>C
ENST00000683459.1:n.4296+16G>C
ENST00000683528.1:c.637+16G>C
ENST00000683590.1:c.3457+16G>C	ENSP00000506820.1:n.3457+16G>C
ENST00000683623.1:c.3616+16G>C	ENSP00000507702.1:n.3616+16G>C
ENST00000683645.1:n.4260+16G>C
ENST00000683796.1:c.*3581+16G>C	ENSP00000508221.1:n.*3581+16G>C
ENST00000683802.1:n.6634+16G>C
ENST00000683833.1:c.3700+16G>C	ENSP00000506852.1:n.3700+16G>C
ENST00000683994.1:c.3709+16G>C	ENSP00000507181.1:n.3709+16G>C
ENST00000684290.1:c.*1245+16G>C	ENSP00000507243.1:n.*1245+16G>C
ENST00000684306.1:c.*3622+16G>C	ENSP00000508384.1:n.*3622+16G>C
ENST00000684341.1:n.3729+16G>C
ENST00000684383.1:c.*3347+16G>C	ENSP00000506863.1:n.*3347+16G>C
ENST00000684418.1:n.4890+16G>C
ENST00000684454.1:n.3059+16G>C
ENST00000684619.1:c.*3581+16G>C	ENSP00000508088.1:n.*3581+16G>C
ENST00000684743.1:n.6454+16G>C
ENST00000260665.12:c.3709+16G>C MANE Select	ENSP00000260665.7:n.3709+16G>C
ENST00000260665.11:c.3709+16G>C	ENSP00000260665.7:n.3709+16G>C
ENST00000463456.5:n.2752+16G>C
ENST00000472420.5:n.106+16G>C
ENST00000483489.1:n.183+16G>C
NM_133259.3:c.3709+16G>C	NP_573566.2:n.3709+16G>C
XM_006711915.2:c.3631+16G>C	XP_006711978.1:n.3631+16G>C
XM_011532473.1:c.3709+16G>C	XP_011530775.1:n.3709+16G>C
XM_011532474.1:c.3709+16G>C	XP_011530776.1:n.3709+16G>C
XM_017003117.1:c.3631+16G>C	XP_016858606.1:n.3631+16G>C
XR_002958896.1:n.3751+16G>C
NM_133259.4:c.3709+16G>C MANE Select	NP_573566.2:n.3709+16G>C