Canonical Allele Identifier: CA346672926

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170938A>T (hg19) ; chr2:g.43943799A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943799A>T , CM000664.2:g.43943799A>T	GRCh38
NC_000002.11:g.44170938A>T , CM000664.1:g.44170938A>T	GRCh37
NC_000002.10:g.44024442A>T	NCBI36
NG_008247.1:g.57207T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2392T>A	ENSP00000386562.2:p.Leu798Ile
ENST00000447246.2:c.2392T>A	ENSP00000403637.2:p.Leu798Ile
ENST00000681961.1:n.2412T>A
ENST00000682104.1:c.2266T>A	ENSP00000507716.1:p.Leu756Ile
ENST00000682303.1:c.*2178T>A	ENSP00000508325.1:n.*2178T>A
ENST00000682308.1:c.2392T>A	ENSP00000507056.1:p.Leu798Ile
ENST00000682480.1:c.2392T>A	ENSP00000508344.1:p.Leu798Ile
ENST00000682546.1:c.2389T>A	ENSP00000508188.1:p.Leu797Ile
ENST00000682585.1:c.2392T>A	ENSP00000506885.1:p.Leu798Ile
ENST00000682595.1:n.2974T>A
ENST00000682607.1:c.810T>A
ENST00000682779.1:c.2383T>A	ENSP00000507947.1:p.Leu795Ile
ENST00000682845.1:n.1494T>A
ENST00000682885.1:c.2347T>A	ENSP00000508036.1:p.Leu783Ile
ENST00000682933.1:n.2466T>A
ENST00000683072.1:n.2974T>A
ENST00000683125.1:c.2392T>A	ENSP00000507939.1:p.Leu798Ile
ENST00000683213.1:c.2395T>A	ENSP00000507751.1:p.Leu799Ile
ENST00000683220.1:c.2422T>A	ENSP00000507151.1:p.Leu808Ile
ENST00000683329.1:n.3195T>A
ENST00000683346.1:c.*2267T>A	ENSP00000507458.1:n.*2267T>A
ENST00000683459.1:n.2979T>A
ENST00000683590.1:c.2392T>A	ENSP00000506820.1:p.Leu798Ile
ENST00000683623.1:c.2299T>A	ENSP00000507702.1:p.Leu767Ile
ENST00000683645.1:n.2943T>A
ENST00000683694.1:n.1143T>A
ENST00000683796.1:c.*2264T>A	ENSP00000508221.1:n.*2264T>A
ENST00000683802.1:n.5317T>A
ENST00000683833.1:c.2383T>A	ENSP00000506852.1:p.Leu795Ile
ENST00000683989.1:c.2392T>A	ENSP00000507510.1:p.Leu798Ile
ENST00000683994.1:c.2392T>A	ENSP00000507181.1:p.Leu798Ile
ENST00000684290.1:c.*86T>A	ENSP00000507243.1:n.*86T>A
ENST00000684306.1:c.*2305T>A	ENSP00000508384.1:n.*2305T>A
ENST00000684341.1:n.2412T>A
ENST00000684383.1:c.*2030T>A	ENSP00000506863.1:n.*2030T>A
ENST00000684397.1:c.96T>A
ENST00000684619.1:c.*2264T>A	ENSP00000508088.1:n.*2264T>A
ENST00000684743.1:n.3423T>A
ENST00000260665.12:c.2392T>A MANE Select	ENSP00000260665.7:p.Leu798Ile
ENST00000260665.11:c.2392T>A	ENSP00000260665.7:p.Leu798Ile
NM_133259.3:c.2392T>A	NP_573566.2:p.Leu798Ile
XM_006711915.2:c.2314T>A	XP_006711978.1:p.Leu772Ile
XM_006711916.2:c.2392T>A	XP_006711979.1:p.Leu798Ile
XM_011532473.1:c.2392T>A	XP_011530775.1:p.Leu798Ile
XM_011532474.1:c.2392T>A	XP_011530776.1:p.Leu798Ile
XM_006711916.3:c.2392T>A	XP_006711979.1:p.Leu798Ile
XM_017003117.1:c.2314T>A	XP_016858606.1:p.Leu772Ile
XR_002958896.1:n.2434T>A
NM_133259.4:c.2392T>A MANE Select	NP_573566.2:p.Leu798Ile