Canonical Allele Identifier: CA346664876

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1714674
• ClinVar RCV Id: RCV002304390
• gnomAD v4: 2-43905703-T-C
• MyVariant Identifiers: chr2:g.44132842T>C (hg19) ; chr2:g.43905703T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905703T>C , CM000664.2:g.43905703T>C	GRCh38
NC_000002.11:g.44132842T>C , CM000664.1:g.44132842T>C	GRCh37
NC_000002.10:g.43986346T>C	NCBI36
NG_008247.1:g.95303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.432A>G
ENST00000681993.1:n.905A>G
ENST00000682295.1:c.508A>G	ENSP00000507499.1:n.508A>G
ENST00000682303.1:c.*3139A>G	ENSP00000508325.1:n.*3139A>G
ENST00000682308.1:c.3353A>G	ENSP00000507056.1:p.Asp1118Gly
ENST00000682480.1:c.3371A>G	ENSP00000508344.1:p.Asp1124Gly
ENST00000682546.1:c.3350A>G	ENSP00000508188.1:p.Asp1117Gly
ENST00000682585.1:c.3353A>G	ENSP00000506885.1:p.Asp1118Gly
ENST00000682595.1:n.3937A>G
ENST00000682607.1:c.1771A>G
ENST00000682612.1:c.205A>G
ENST00000682779.1:c.3344A>G	ENSP00000507947.1:p.Asp1115Gly
ENST00000682845.1:n.2455A>G
ENST00000682885.1:c.3308A>G	ENSP00000508036.1:p.Asp1103Gly
ENST00000682933.1:n.3427A>G
ENST00000683002.1:c.205A>G
ENST00000683072.1:n.3937A>G
ENST00000683080.1:n.972A>G
ENST00000683125.1:c.3461A>G	ENSP00000507939.1:p.Asp1154Gly
ENST00000683213.1:c.3356A>G	ENSP00000507751.1:p.Asp1119Gly
ENST00000683220.1:c.3383A>G	ENSP00000507151.1:p.Asp1128Gly
ENST00000683329.1:n.4156A>G
ENST00000683346.1:c.*3228A>G	ENSP00000507458.1:n.*3228A>G
ENST00000683409.1:n.1960A>G
ENST00000683459.1:n.3940A>G
ENST00000683528.1:c.205A>G
ENST00000683590.1:c.3101A>G	ENSP00000506820.1:p.Asp1034Gly
ENST00000683623.1:c.3260A>G	ENSP00000507702.1:p.Asp1087Gly
ENST00000683645.1:n.3904A>G
ENST00000683796.1:c.*3225A>G	ENSP00000508221.1:n.*3225A>G
ENST00000683802.1:n.6278A>G
ENST00000683833.1:c.3344A>G	ENSP00000506852.1:p.Asp1115Gly
ENST00000683994.1:c.3353A>G	ENSP00000507181.1:p.Asp1118Gly
ENST00000684290.1:c.*889A>G	ENSP00000507243.1:n.*889A>G
ENST00000684306.1:c.*3266A>G	ENSP00000508384.1:n.*3266A>G
ENST00000684341.1:n.3373A>G
ENST00000684383.1:c.*2991A>G	ENSP00000506863.1:n.*2991A>G
ENST00000684418.1:n.4534A>G
ENST00000684454.1:n.2703A>G
ENST00000684619.1:c.*3225A>G	ENSP00000508088.1:n.*3225A>G
ENST00000684743.1:n.4384A>G
ENST00000260665.12:c.3353A>G MANE Select	ENSP00000260665.7:p.Asp1118Gly
ENST00000260665.11:c.3353A>G	ENSP00000260665.7:p.Asp1118Gly
NM_133259.3:c.3353A>G	NP_573566.2:p.Asp1118Gly
XM_006711915.2:c.3275A>G	XP_006711978.1:p.Asp1092Gly
XM_011532473.1:c.3353A>G	XP_011530775.1:p.Asp1118Gly
XM_011532474.1:c.3353A>G	XP_011530776.1:p.Asp1118Gly
XM_017003117.1:c.3275A>G	XP_016858606.1:p.Asp1092Gly
XR_002958896.1:n.3395A>G
NM_133259.4:c.3353A>G MANE Select	NP_573566.2:p.Asp1118Gly