Canonical Allele Identifier: CA1637942

Gene: LRPPRC

Linked Data

• dbSNP Id: rs780007933
• ExAC: 2:44126372 T / C
• gnomAD v2: 2-44126372-T-C
• gnomAD v3: 2-43899233-T-C
• gnomAD v4: 2-43899233-T-C
• MyVariant Identifiers: chr2:g.44126372T>C (hg19) ; chr2:g.43899233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899233T>C , CM000664.2:g.43899233T>C	GRCh38
NC_000002.11:g.44126372T>C , CM000664.1:g.44126372T>C	GRCh37
NC_000002.10:g.43979876T>C	NCBI36
NG_008247.1:g.101773A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.242A>G
ENST00000472420.6:n.890A>G
ENST00000483489.2:n.242A>G
ENST00000681993.1:n.1363A>G
ENST00000682303.1:c.*3597A>G	ENSP00000508325.1:n.*3597A>G
ENST00000682308.1:c.3811A>G	ENSP00000507056.1:p.Arg1271Gly
ENST00000682434.1:n.1362A>G
ENST00000682480.1:c.3829A>G	ENSP00000508344.1:p.Arg1277Gly
ENST00000682546.1:c.3808A>G	ENSP00000508188.1:p.Arg1270Gly
ENST00000682585.1:c.3811A>G	ENSP00000506885.1:p.Arg1271Gly
ENST00000682595.1:n.4395A>G
ENST00000682607.1:c.2229A>G
ENST00000682612.1:c.663A>G
ENST00000682779.1:c.3802A>G	ENSP00000507947.1:p.Arg1268Gly
ENST00000682885.1:c.3766A>G	ENSP00000508036.1:p.Arg1256Gly
ENST00000682933.1:n.3885A>G
ENST00000683002.1:c.663A>G
ENST00000683072.1:n.4395A>G
ENST00000683080.1:n.1430A>G
ENST00000683125.1:c.3919A>G	ENSP00000507939.1:p.Arg1307Gly
ENST00000683213.1:c.3814A>G	ENSP00000507751.1:p.Arg1272Gly
ENST00000683220.1:c.3841A>G	ENSP00000507151.1:p.Arg1281Gly
ENST00000683329.1:n.4614A>G
ENST00000683346.1:c.*3686A>G	ENSP00000507458.1:n.*3686A>G
ENST00000683409.1:n.2418A>G
ENST00000683459.1:n.4398A>G
ENST00000683528.1:c.739A>G
ENST00000683590.1:c.3559A>G	ENSP00000506820.1:p.Arg1187Gly
ENST00000683623.1:c.3718A>G	ENSP00000507702.1:p.Arg1240Gly
ENST00000683645.1:n.4362A>G
ENST00000683796.1:c.*3683A>G	ENSP00000508221.1:n.*3683A>G
ENST00000683802.1:n.6736A>G
ENST00000683833.1:c.3802A>G	ENSP00000506852.1:p.Arg1268Gly
ENST00000683994.1:c.3811A>G	ENSP00000507181.1:p.Arg1271Gly
ENST00000684290.1:c.*1347A>G	ENSP00000507243.1:n.*1347A>G
ENST00000684306.1:c.*3724A>G	ENSP00000508384.1:n.*3724A>G
ENST00000684341.1:n.3831A>G
ENST00000684383.1:c.*3449A>G	ENSP00000506863.1:n.*3449A>G
ENST00000684418.1:n.4992A>G
ENST00000684433.1:n.195A>G
ENST00000684454.1:n.3161A>G
ENST00000684619.1:c.*3683A>G	ENSP00000508088.1:n.*3683A>G
ENST00000684743.1:n.6556A>G
ENST00000260665.12:c.3811A>G MANE Select	ENSP00000260665.7:p.Arg1271Gly
ENST00000260665.11:c.3811A>G	ENSP00000260665.7:p.Arg1271Gly
ENST00000419884.5:c.52A>G	ENSP00000414207.1:p.Arg18Gly
ENST00000463456.5:n.2854A>G
ENST00000472420.5:n.208A>G
ENST00000483489.1:n.285A>G
NM_133259.3:c.3811A>G	NP_573566.2:p.Arg1271Gly
XM_006711915.2:c.3733A>G	XP_006711978.1:p.Arg1245Gly
XM_011532473.1:c.3811A>G	XP_011530775.1:p.Arg1271Gly
XM_011532474.1:c.3811A>G	XP_011530776.1:p.Arg1271Gly
XM_017003117.1:c.3733A>G	XP_016858606.1:p.Arg1245Gly
XR_002958896.1:n.3853A>G
NM_133259.4:c.3811A>G MANE Select	NP_573566.2:p.Arg1271Gly