Canonical Allele Identifier: CA346674916

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894616-T-A
• MyVariant Identifiers: chr2:g.44121755T>A (hg19) ; chr2:g.43894616T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894616T>A , CM000664.2:g.43894616T>A	GRCh38
NC_000002.11:g.44121755T>A , CM000664.1:g.44121755T>A	GRCh37
NC_000002.10:g.43975259T>A	NCBI36
NG_008247.1:g.106390A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.544A>T
ENST00000681993.1:n.1466A>T
ENST00000682154.1:n.1348A>T
ENST00000682303.1:c.*3625A>T	ENSP00000508325.1:n.*3625A>T
ENST00000682308.1:c.3839A>T	ENSP00000507056.1:p.Lys1280Ile
ENST00000682434.1:n.3469A>T
ENST00000682480.1:c.3932A>T	ENSP00000508344.1:p.Lys1311Ile
ENST00000682546.1:c.3911A>T	ENSP00000508188.1:p.Lys1304Ile
ENST00000682585.1:c.*42A>T	ENSP00000506885.1:n.*42A>T
ENST00000682607.1:c.2657A>T
ENST00000682612.1:c.752+2018A>T
ENST00000682696.1:c.14A>T	ENSP00000508411.1:p.Lys5Ile
ENST00000682779.1:c.3905A>T	ENSP00000507947.1:p.Lys1302Ile
ENST00000682885.1:c.3869A>T	ENSP00000508036.1:p.Lys1290Ile
ENST00000682933.1:n.4114A>T
ENST00000683002.1:c.766A>T
ENST00000683072.1:n.4498A>T
ENST00000683080.1:n.1533A>T
ENST00000683096.1:n.2355A>T
ENST00000683125.1:c.4022A>T	ENSP00000507939.1:p.Lys1341Ile
ENST00000683213.1:c.3917A>T	ENSP00000507751.1:p.Lys1306Ile
ENST00000683220.1:c.3944A>T	ENSP00000507151.1:p.Lys1315Ile
ENST00000683329.1:n.4717A>T
ENST00000683346.1:c.*3789A>T	ENSP00000507458.1:n.*3789A>T
ENST00000683409.1:n.2446A>T
ENST00000683459.1:n.4501A>T
ENST00000683590.1:c.3587A>T	ENSP00000506820.1:p.Lys1196Ile
ENST00000683623.1:c.3821A>T	ENSP00000507702.1:p.Lys1274Ile
ENST00000683796.1:c.*3711A>T	ENSP00000508221.1:n.*3711A>T
ENST00000683833.1:c.3830A>T	ENSP00000506852.1:p.Lys1277Ile
ENST00000683994.1:c.*27A>T	ENSP00000507181.1:n.*27A>T
ENST00000684290.1:c.*1375A>T	ENSP00000507243.1:n.*1375A>T
ENST00000684306.1:c.*3827A>T	ENSP00000508384.1:n.*3827A>T
ENST00000684383.1:c.*3552A>T	ENSP00000506863.1:n.*3552A>T
ENST00000684418.1:n.5095A>T
ENST00000684433.1:n.298A>T
ENST00000684454.1:n.7778A>T
ENST00000684619.1:c.*3786A>T	ENSP00000508088.1:n.*3786A>T
ENST00000684743.1:n.6659A>T
ENST00000260665.12:c.3914A>T MANE Select	ENSP00000260665.7:p.Lys1305Ile
ENST00000260665.11:c.3914A>T	ENSP00000260665.7:p.Lys1305Ile
ENST00000419884.5:c.155A>T	ENSP00000414207.1:p.Lys52Ile
ENST00000463456.5:n.2957A>T
NM_133259.3:c.3914A>T	NP_573566.2:p.Lys1305Ile
XM_006711915.2:c.3836A>T	XP_006711978.1:p.Lys1279Ile
XM_011532473.1:c.3839A>T	XP_011530775.1:p.Lys1280Ile
XM_011532474.1:c.3914A>T	XP_011530776.1:p.Lys1305Ile
XM_017003117.1:c.3761A>T	XP_016858606.1:p.Lys1254Ile
XR_002958896.1:n.3956A>T
NM_133259.4:c.3914A>T MANE Select	NP_573566.2:p.Lys1305Ile