Canonical Allele Identifier: CA1637873

Gene: LRPPRC

Linked Data

• dbSNP Id: rs778860532
• ExAC: 2:44121704 T / A
• gnomAD v4: 2-43894565-T-A
• MyVariant Identifiers: chr2:g.44121704T>A (hg19) ; chr2:g.43894565T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894565T>A , CM000664.2:g.43894565T>A	GRCh38
NC_000002.11:g.44121704T>A , CM000664.1:g.44121704T>A	GRCh37
NC_000002.10:g.43975208T>A	NCBI36
NG_008247.1:g.106441A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.595A>T
ENST00000681993.1:n.1517A>T
ENST00000682154.1:n.1399A>T
ENST00000682303.1:c.*3676A>T	ENSP00000508325.1:n.*3676A>T
ENST00000682308.1:c.3890A>T	ENSP00000507056.1:p.Asn1297Ile
ENST00000682434.1:n.3520A>T
ENST00000682480.1:c.3983A>T	ENSP00000508344.1:p.Asn1328Ile
ENST00000682546.1:c.3962A>T	ENSP00000508188.1:p.Asn1321Ile
ENST00000682585.1:c.*93A>T	ENSP00000506885.1:n.*93A>T
ENST00000682607.1:c.2708A>T
ENST00000682612.1:c.752+2069A>T
ENST00000682696.1:c.65A>T	ENSP00000508411.1:p.Asn22Ile
ENST00000682779.1:c.3956A>T	ENSP00000507947.1:p.Asn1319Ile
ENST00000682885.1:c.3920A>T	ENSP00000508036.1:p.Asn1307Ile
ENST00000682933.1:n.4165A>T
ENST00000683002.1:c.817A>T
ENST00000683072.1:n.4549A>T
ENST00000683080.1:n.1584A>T
ENST00000683096.1:n.2406A>T
ENST00000683125.1:c.4073A>T	ENSP00000507939.1:p.Asn1358Ile
ENST00000683213.1:c.3968A>T	ENSP00000507751.1:p.Asn1323Ile
ENST00000683220.1:c.3995A>T	ENSP00000507151.1:p.Asn1332Ile
ENST00000683329.1:n.4768A>T
ENST00000683346.1:c.*3840A>T	ENSP00000507458.1:n.*3840A>T
ENST00000683409.1:n.2497A>T
ENST00000683459.1:n.4552A>T
ENST00000683590.1:c.3638A>T	ENSP00000506820.1:p.Asn1213Ile
ENST00000683623.1:c.3872A>T	ENSP00000507702.1:p.Asn1291Ile
ENST00000683796.1:c.*3762A>T	ENSP00000508221.1:n.*3762A>T
ENST00000683833.1:c.3881A>T	ENSP00000506852.1:p.Asn1294Ile
ENST00000683994.1:c.*78A>T	ENSP00000507181.1:n.*78A>T
ENST00000684290.1:c.*1426A>T	ENSP00000507243.1:n.*1426A>T
ENST00000684306.1:c.*3878A>T	ENSP00000508384.1:n.*3878A>T
ENST00000684383.1:c.*3603A>T	ENSP00000506863.1:n.*3603A>T
ENST00000684418.1:n.5146A>T
ENST00000684433.1:n.349A>T
ENST00000684454.1:n.7829A>T
ENST00000684619.1:c.*3837A>T	ENSP00000508088.1:n.*3837A>T
ENST00000684743.1:n.6710A>T
ENST00000260665.12:c.3965A>T MANE Select	ENSP00000260665.7:p.Asn1322Ile
ENST00000260665.11:c.3965A>T	ENSP00000260665.7:p.Asn1322Ile
ENST00000419884.5:c.206A>T	ENSP00000414207.1:p.Asn69Ile
ENST00000463456.5:n.3008A>T
NM_133259.3:c.3965A>T	NP_573566.2:p.Asn1322Ile
XM_006711915.2:c.3887A>T	XP_006711978.1:p.Asn1296Ile
XM_011532473.1:c.3890A>T	XP_011530775.1:p.Asn1297Ile
XM_011532474.1:c.3965A>T	XP_011530776.1:p.Asn1322Ile
XM_017003117.1:c.3812A>T	XP_016858606.1:p.Asn1271Ile
XR_002958896.1:n.4007A>T
NM_133259.4:c.3965A>T MANE Select	NP_573566.2:p.Asn1322Ile