Canonical Allele Identifier: CA346676728

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126457C>A (hg19) ; chr2:g.43899318C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899318C>A , CM000664.2:g.43899318C>A	GRCh38
NC_000002.11:g.44126457C>A , CM000664.1:g.44126457C>A	GRCh37
NC_000002.10:g.43979961C>A	NCBI36
NG_008247.1:g.101688G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.157G>T
ENST00000472420.6:n.805G>T
ENST00000483489.2:n.157G>T
ENST00000681993.1:n.1278G>T
ENST00000682303.1:c.*3512G>T	ENSP00000508325.1:n.*3512G>T
ENST00000682308.1:c.3726G>T	ENSP00000507056.1:p.Glu1242Asp
ENST00000682434.1:n.1277G>T
ENST00000682480.1:c.3744G>T	ENSP00000508344.1:p.Glu1248Asp
ENST00000682546.1:c.3723G>T	ENSP00000508188.1:p.Glu1241Asp
ENST00000682585.1:c.3726G>T	ENSP00000506885.1:p.Glu1242Asp
ENST00000682595.1:n.4310G>T
ENST00000682607.1:c.2144G>T
ENST00000682612.1:c.578G>T
ENST00000682779.1:c.3717G>T	ENSP00000507947.1:p.Glu1239Asp
ENST00000682845.1:n.2828G>T
ENST00000682885.1:c.3681G>T	ENSP00000508036.1:p.Glu1227Asp
ENST00000682933.1:n.3800G>T
ENST00000683002.1:c.578G>T
ENST00000683072.1:n.4310G>T
ENST00000683080.1:n.1345G>T
ENST00000683125.1:c.3834G>T	ENSP00000507939.1:p.Glu1278Asp
ENST00000683213.1:c.3729G>T	ENSP00000507751.1:p.Glu1243Asp
ENST00000683220.1:c.3756G>T	ENSP00000507151.1:p.Glu1252Asp
ENST00000683329.1:n.4529G>T
ENST00000683346.1:c.*3601G>T	ENSP00000507458.1:n.*3601G>T
ENST00000683409.1:n.2333G>T
ENST00000683459.1:n.4313G>T
ENST00000683528.1:c.654G>T
ENST00000683590.1:c.3474G>T	ENSP00000506820.1:p.Glu1158Asp
ENST00000683623.1:c.3633G>T	ENSP00000507702.1:p.Glu1211Asp
ENST00000683645.1:n.4277G>T
ENST00000683796.1:c.*3598G>T	ENSP00000508221.1:n.*3598G>T
ENST00000683802.1:n.6651G>T
ENST00000683833.1:c.3717G>T	ENSP00000506852.1:p.Glu1239Asp
ENST00000683994.1:c.3726G>T	ENSP00000507181.1:p.Glu1242Asp
ENST00000684290.1:c.*1262G>T	ENSP00000507243.1:n.*1262G>T
ENST00000684306.1:c.*3639G>T	ENSP00000508384.1:n.*3639G>T
ENST00000684341.1:n.3746G>T
ENST00000684383.1:c.*3364G>T	ENSP00000506863.1:n.*3364G>T
ENST00000684418.1:n.4907G>T
ENST00000684433.1:n.110G>T
ENST00000684454.1:n.3076G>T
ENST00000684619.1:c.*3598G>T	ENSP00000508088.1:n.*3598G>T
ENST00000684743.1:n.6471G>T
ENST00000260665.12:c.3726G>T MANE Select	ENSP00000260665.7:p.Glu1242Asp
ENST00000260665.11:c.3726G>T	ENSP00000260665.7:p.Glu1242Asp
ENST00000463456.5:n.2769G>T
ENST00000472420.5:n.123G>T
ENST00000483489.1:n.200G>T
NM_133259.3:c.3726G>T	NP_573566.2:p.Glu1242Asp
XM_006711915.2:c.3648G>T	XP_006711978.1:p.Glu1216Asp
XM_011532473.1:c.3726G>T	XP_011530775.1:p.Glu1242Asp
XM_011532474.1:c.3726G>T	XP_011530776.1:p.Glu1242Asp
XM_017003117.1:c.3648G>T	XP_016858606.1:p.Glu1216Asp
XR_002958896.1:n.3768G>T
NM_133259.4:c.3726G>T MANE Select	NP_573566.2:p.Glu1242Asp