Canonical Allele Identifier: CA346676739

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899320-C-G
• MyVariant Identifiers: chr2:g.44126459C>G (hg19) ; chr2:g.43899320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899320C>G , CM000664.2:g.43899320C>G	GRCh38
NC_000002.11:g.44126459C>G , CM000664.1:g.44126459C>G	GRCh37
NC_000002.10:g.43979963C>G	NCBI36
NG_008247.1:g.101686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.155G>C
ENST00000472420.6:n.803G>C
ENST00000483489.2:n.155G>C
ENST00000681993.1:n.1276G>C
ENST00000682303.1:c.*3510G>C	ENSP00000508325.1:n.*3510G>C
ENST00000682308.1:c.3724G>C	ENSP00000507056.1:p.Glu1242Gln
ENST00000682434.1:n.1275G>C
ENST00000682480.1:c.3742G>C	ENSP00000508344.1:p.Glu1248Gln
ENST00000682546.1:c.3721G>C	ENSP00000508188.1:p.Glu1241Gln
ENST00000682585.1:c.3724G>C	ENSP00000506885.1:p.Glu1242Gln
ENST00000682595.1:n.4308G>C
ENST00000682607.1:c.2142G>C
ENST00000682612.1:c.576G>C
ENST00000682779.1:c.3715G>C	ENSP00000507947.1:p.Glu1239Gln
ENST00000682845.1:n.2826G>C
ENST00000682885.1:c.3679G>C	ENSP00000508036.1:p.Glu1227Gln
ENST00000682933.1:n.3798G>C
ENST00000683002.1:c.576G>C
ENST00000683072.1:n.4308G>C
ENST00000683080.1:n.1343G>C
ENST00000683125.1:c.3832G>C	ENSP00000507939.1:p.Glu1278Gln
ENST00000683213.1:c.3727G>C	ENSP00000507751.1:p.Glu1243Gln
ENST00000683220.1:c.3754G>C	ENSP00000507151.1:p.Glu1252Gln
ENST00000683329.1:n.4527G>C
ENST00000683346.1:c.*3599G>C	ENSP00000507458.1:n.*3599G>C
ENST00000683409.1:n.2331G>C
ENST00000683459.1:n.4311G>C
ENST00000683528.1:c.652G>C
ENST00000683590.1:c.3472G>C	ENSP00000506820.1:p.Glu1158Gln
ENST00000683623.1:c.3631G>C	ENSP00000507702.1:p.Glu1211Gln
ENST00000683645.1:n.4275G>C
ENST00000683796.1:c.*3596G>C	ENSP00000508221.1:n.*3596G>C
ENST00000683802.1:n.6649G>C
ENST00000683833.1:c.3715G>C	ENSP00000506852.1:p.Glu1239Gln
ENST00000683994.1:c.3724G>C	ENSP00000507181.1:p.Glu1242Gln
ENST00000684290.1:c.*1260G>C	ENSP00000507243.1:n.*1260G>C
ENST00000684306.1:c.*3637G>C	ENSP00000508384.1:n.*3637G>C
ENST00000684341.1:n.3744G>C
ENST00000684383.1:c.*3362G>C	ENSP00000506863.1:n.*3362G>C
ENST00000684418.1:n.4905G>C
ENST00000684433.1:n.108G>C
ENST00000684454.1:n.3074G>C
ENST00000684619.1:c.*3596G>C	ENSP00000508088.1:n.*3596G>C
ENST00000684743.1:n.6469G>C
ENST00000260665.12:c.3724G>C MANE Select	ENSP00000260665.7:p.Glu1242Gln
ENST00000260665.11:c.3724G>C	ENSP00000260665.7:p.Glu1242Gln
ENST00000463456.5:n.2767G>C
ENST00000472420.5:n.121G>C
ENST00000483489.1:n.198G>C
NM_133259.3:c.3724G>C	NP_573566.2:p.Glu1242Gln
XM_006711915.2:c.3646G>C	XP_006711978.1:p.Glu1216Gln
XM_011532473.1:c.3724G>C	XP_011530775.1:p.Glu1242Gln
XM_011532474.1:c.3724G>C	XP_011530776.1:p.Glu1242Gln
XM_017003117.1:c.3646G>C	XP_016858606.1:p.Glu1216Gln
XR_002958896.1:n.3766G>C
NM_133259.4:c.3724G>C MANE Select	NP_573566.2:p.Glu1242Gln