Canonical Allele Identifier: CA346676407

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2187024
• ClinVar RCV Id: RCV002611286
• dbSNP Id: rs1416711428
• gnomAD v2: 2-44126381-C-T
• gnomAD v4: 2-43899242-C-T
• MyVariant Identifiers: chr2:g.44126381C>T (hg19) ; chr2:g.43899242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899242C>T , CM000664.2:g.43899242C>T	GRCh38
NC_000002.11:g.44126381C>T , CM000664.1:g.44126381C>T	GRCh37
NC_000002.10:g.43979885C>T	NCBI36
NG_008247.1:g.101764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.233G>A
ENST00000472420.6:n.881G>A
ENST00000483489.2:n.233G>A
ENST00000681993.1:n.1354G>A
ENST00000682303.1:c.*3588G>A	ENSP00000508325.1:n.*3588G>A
ENST00000682308.1:c.3802G>A	ENSP00000507056.1:p.Asp1268Asn
ENST00000682434.1:n.1353G>A
ENST00000682480.1:c.3820G>A	ENSP00000508344.1:p.Asp1274Asn
ENST00000682546.1:c.3799G>A	ENSP00000508188.1:p.Asp1267Asn
ENST00000682585.1:c.3802G>A	ENSP00000506885.1:p.Asp1268Asn
ENST00000682595.1:n.4386G>A
ENST00000682607.1:c.2220G>A
ENST00000682612.1:c.654G>A
ENST00000682779.1:c.3793G>A	ENSP00000507947.1:p.Asp1265Asn
ENST00000682885.1:c.3757G>A	ENSP00000508036.1:p.Asp1253Asn
ENST00000682933.1:n.3876G>A
ENST00000683002.1:c.654G>A
ENST00000683072.1:n.4386G>A
ENST00000683080.1:n.1421G>A
ENST00000683125.1:c.3910G>A	ENSP00000507939.1:p.Asp1304Asn
ENST00000683213.1:c.3805G>A	ENSP00000507751.1:p.Asp1269Asn
ENST00000683220.1:c.3832G>A	ENSP00000507151.1:p.Asp1278Asn
ENST00000683329.1:n.4605G>A
ENST00000683346.1:c.*3677G>A	ENSP00000507458.1:n.*3677G>A
ENST00000683409.1:n.2409G>A
ENST00000683459.1:n.4389G>A
ENST00000683528.1:c.730G>A
ENST00000683590.1:c.3550G>A	ENSP00000506820.1:p.Asp1184Asn
ENST00000683623.1:c.3709G>A	ENSP00000507702.1:p.Asp1237Asn
ENST00000683645.1:n.4353G>A
ENST00000683796.1:c.*3674G>A	ENSP00000508221.1:n.*3674G>A
ENST00000683802.1:n.6727G>A
ENST00000683833.1:c.3793G>A	ENSP00000506852.1:p.Asp1265Asn
ENST00000683994.1:c.3802G>A	ENSP00000507181.1:p.Asp1268Asn
ENST00000684290.1:c.*1338G>A	ENSP00000507243.1:n.*1338G>A
ENST00000684306.1:c.*3715G>A	ENSP00000508384.1:n.*3715G>A
ENST00000684341.1:n.3822G>A
ENST00000684383.1:c.*3440G>A	ENSP00000506863.1:n.*3440G>A
ENST00000684418.1:n.4983G>A
ENST00000684433.1:n.186G>A
ENST00000684454.1:n.3152G>A
ENST00000684619.1:c.*3674G>A	ENSP00000508088.1:n.*3674G>A
ENST00000684743.1:n.6547G>A
ENST00000260665.12:c.3802G>A MANE Select	ENSP00000260665.7:p.Asp1268Asn
ENST00000260665.11:c.3802G>A	ENSP00000260665.7:p.Asp1268Asn
ENST00000419884.5:c.43G>A	ENSP00000414207.1:p.Asp15Asn
ENST00000463456.5:n.2845G>A
ENST00000472420.5:n.199G>A
ENST00000483489.1:n.276G>A
NM_133259.3:c.3802G>A	NP_573566.2:p.Asp1268Asn
XM_006711915.2:c.3724G>A	XP_006711978.1:p.Asp1242Asn
XM_011532473.1:c.3802G>A	XP_011530775.1:p.Asp1268Asn
XM_011532474.1:c.3802G>A	XP_011530776.1:p.Asp1268Asn
XM_017003117.1:c.3724G>A	XP_016858606.1:p.Asp1242Asn
XR_002958896.1:n.3844G>A
NM_133259.4:c.3802G>A MANE Select	NP_573566.2:p.Asp1268Asn