Canonical Allele Identifier: CA2658839343

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43943676-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943676A>C , CM000664.2:g.43943676A>C	GRCh38
NC_000002.11:g.44170815A>C , CM000664.1:g.44170815A>C	GRCh37
NC_000002.10:g.44024319A>C	NCBI36
NG_008247.1:g.57330T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2504+11T>G	ENSP00000386562.2:n.2504+11T>G
ENST00000447246.2:c.2504+11T>G	ENSP00000403637.2:n.2504+11T>G
ENST00000681961.1:n.2524+11T>G
ENST00000682104.1:c.2378+11T>G	ENSP00000507716.1:n.2378+11T>G
ENST00000682303.1:c.*2290+11T>G	ENSP00000508325.1:n.*2290+11T>G
ENST00000682308.1:c.2504+11T>G	ENSP00000507056.1:n.2504+11T>G
ENST00000682480.1:c.2504+11T>G	ENSP00000508344.1:n.2504+11T>G
ENST00000682546.1:c.2501+11T>G	ENSP00000508188.1:n.2501+11T>G
ENST00000682585.1:c.2504+11T>G	ENSP00000506885.1:n.2504+11T>G
ENST00000682595.1:n.3086+11T>G
ENST00000682607.1:c.922+11T>G
ENST00000682779.1:c.2495+11T>G	ENSP00000507947.1:n.2495+11T>G
ENST00000682845.1:n.1606+11T>G
ENST00000682885.1:c.2459+11T>G	ENSP00000508036.1:n.2459+11T>G
ENST00000682933.1:n.2578+11T>G
ENST00000683072.1:n.3086+11T>G
ENST00000683125.1:c.2504+11T>G	ENSP00000507939.1:n.2504+11T>G
ENST00000683213.1:c.2507+11T>G	ENSP00000507751.1:n.2507+11T>G
ENST00000683220.1:c.2534+11T>G	ENSP00000507151.1:n.2534+11T>G
ENST00000683329.1:n.3307+11T>G
ENST00000683346.1:c.*2379+11T>G	ENSP00000507458.1:n.*2379+11T>G
ENST00000683459.1:n.3091+11T>G
ENST00000683590.1:c.2504+11T>G	ENSP00000506820.1:n.2504+11T>G
ENST00000683623.1:c.2411+11T>G	ENSP00000507702.1:n.2411+11T>G
ENST00000683645.1:n.3055+11T>G
ENST00000683694.1:n.1255+11T>G
ENST00000683796.1:c.*2376+11T>G	ENSP00000508221.1:n.*2376+11T>G
ENST00000683802.1:n.5429+11T>G
ENST00000683833.1:c.2495+11T>G	ENSP00000506852.1:n.2495+11T>G
ENST00000683989.1:c.2504+11T>G	ENSP00000507510.1:n.2504+11T>G
ENST00000683994.1:c.2504+11T>G	ENSP00000507181.1:n.2504+11T>G
ENST00000684290.1:c.*198+11T>G	ENSP00000507243.1:n.*198+11T>G
ENST00000684306.1:c.*2417+11T>G	ENSP00000508384.1:n.*2417+11T>G
ENST00000684341.1:n.2524+11T>G
ENST00000684383.1:c.*2142+11T>G	ENSP00000506863.1:n.*2142+11T>G
ENST00000684397.1:c.208+11T>G
ENST00000684619.1:c.*2376+11T>G	ENSP00000508088.1:n.*2376+11T>G
ENST00000684743.1:n.3535+11T>G
ENST00000260665.12:c.2504+11T>G MANE Select	ENSP00000260665.7:n.2504+11T>G
ENST00000260665.11:c.2504+11T>G	ENSP00000260665.7:n.2504+11T>G
NM_133259.3:c.2504+11T>G	NP_573566.2:n.2504+11T>G
XM_006711915.2:c.2426+11T>G	XP_006711978.1:n.2426+11T>G
XM_006711916.2:c.2504+11T>G	XP_006711979.1:n.2504+11T>G
XM_011532473.1:c.2504+11T>G	XP_011530775.1:n.2504+11T>G
XM_011532474.1:c.2504+11T>G	XP_011530776.1:n.2504+11T>G
XM_006711916.3:c.2504+11T>G	XP_006711979.1:n.2504+11T>G
XM_017003117.1:c.2426+11T>G	XP_016858606.1:n.2426+11T>G
XR_002958896.1:n.2546+11T>G
NM_133259.4:c.2504+11T>G MANE Select	NP_573566.2:n.2504+11T>G