Canonical Allele Identifier: CA346668224

Gene: LRPPRC

Linked Data

• COSMIC: COSM4805368
• MyVariant Identifiers: chr2:g.44145241T>A (hg19) ; chr2:g.43918102T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918102T>A , CM000664.2:g.43918102T>A	GRCh38
NC_000002.11:g.44145241T>A , CM000664.1:g.44145241T>A	GRCh37
NC_000002.10:g.43998745T>A	NCBI36
NG_008247.1:g.82904A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.623A>T
ENST00000682295.1:c.303+154A>T	ENSP00000507499.1:n.303+154A>T
ENST00000682303.1:c.*2857A>T	ENSP00000508325.1:n.*2857A>T
ENST00000682308.1:c.3071A>T	ENSP00000507056.1:p.Asn1024Ile
ENST00000682480.1:c.3089A>T	ENSP00000508344.1:p.Asn1030Ile
ENST00000682546.1:c.3068A>T	ENSP00000508188.1:p.Asn1023Ile
ENST00000682585.1:c.3071A>T	ENSP00000506885.1:p.Asn1024Ile
ENST00000682595.1:n.3655A>T
ENST00000682607.1:c.1489A>T
ENST00000682779.1:c.3062A>T	ENSP00000507947.1:p.Asn1021Ile
ENST00000682845.1:n.2173A>T
ENST00000682885.1:c.3026A>T	ENSP00000508036.1:p.Asn1009Ile
ENST00000682933.1:n.3145A>T
ENST00000683072.1:n.3655A>T
ENST00000683080.1:n.690A>T
ENST00000683125.1:c.3179A>T	ENSP00000507939.1:p.Asn1060Ile
ENST00000683213.1:c.3074A>T	ENSP00000507751.1:p.Asn1025Ile
ENST00000683220.1:c.3101A>T	ENSP00000507151.1:p.Asn1034Ile
ENST00000683329.1:n.3874A>T
ENST00000683346.1:c.*2946A>T	ENSP00000507458.1:n.*2946A>T
ENST00000683409.1:n.1678A>T
ENST00000683459.1:n.3658A>T
ENST00000683590.1:c.2897-5544A>T	ENSP00000506820.1:n.2897-5544A>T
ENST00000683623.1:c.2978A>T	ENSP00000507702.1:p.Asn993Ile
ENST00000683645.1:n.3622A>T
ENST00000683796.1:c.*2943A>T	ENSP00000508221.1:n.*2943A>T
ENST00000683802.1:n.5996A>T
ENST00000683833.1:c.3062A>T	ENSP00000506852.1:p.Asn1021Ile
ENST00000683994.1:c.3071A>T	ENSP00000507181.1:p.Asn1024Ile
ENST00000684290.1:c.*607A>T	ENSP00000507243.1:n.*607A>T
ENST00000684306.1:c.*2984A>T	ENSP00000508384.1:n.*2984A>T
ENST00000684341.1:n.3091A>T
ENST00000684383.1:c.*2709A>T	ENSP00000506863.1:n.*2709A>T
ENST00000684619.1:c.*2943A>T	ENSP00000508088.1:n.*2943A>T
ENST00000684705.1:n.192A>T
ENST00000684743.1:n.4102A>T
ENST00000260665.12:c.3071A>T MANE Select	ENSP00000260665.7:p.Asn1024Ile
ENST00000260665.11:c.3071A>T	ENSP00000260665.7:p.Asn1024Ile
NM_133259.3:c.3071A>T	NP_573566.2:p.Asn1024Ile
XM_006711915.2:c.2993A>T	XP_006711978.1:p.Asn998Ile
XM_006711916.2:c.3071A>T	XP_006711979.1:p.Asn1024Ile
XM_011532473.1:c.3071A>T	XP_011530775.1:p.Asn1024Ile
XM_011532474.1:c.3071A>T	XP_011530776.1:p.Asn1024Ile
XM_006711916.3:c.3071A>T	XP_006711979.1:p.Asn1024Ile
XM_017003117.1:c.2993A>T	XP_016858606.1:p.Asn998Ile
XR_002958896.1:n.3113A>T
NM_133259.4:c.3071A>T MANE Select	NP_573566.2:p.Asn1024Ile