Canonical Allele Identifier: CA346676360

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126371C>G (hg19) ; chr2:g.43899232C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899232C>G , CM000664.2:g.43899232C>G	GRCh38
NC_000002.11:g.44126371C>G , CM000664.1:g.44126371C>G	GRCh37
NC_000002.10:g.43979875C>G	NCBI36
NG_008247.1:g.101774G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.243G>C
ENST00000472420.6:n.891G>C
ENST00000483489.2:n.243G>C
ENST00000681993.1:n.1364G>C
ENST00000682303.1:c.*3598G>C	ENSP00000508325.1:n.*3598G>C
ENST00000682308.1:c.3812G>C	ENSP00000507056.1:p.Arg1271Thr
ENST00000682434.1:n.1363G>C
ENST00000682480.1:c.3830G>C	ENSP00000508344.1:p.Arg1277Thr
ENST00000682546.1:c.3809G>C	ENSP00000508188.1:p.Arg1270Thr
ENST00000682585.1:c.3812G>C	ENSP00000506885.1:p.Arg1271Thr
ENST00000682595.1:n.4396G>C
ENST00000682607.1:c.2230G>C
ENST00000682612.1:c.664G>C
ENST00000682779.1:c.3803G>C	ENSP00000507947.1:p.Arg1268Thr
ENST00000682885.1:c.3767G>C	ENSP00000508036.1:p.Arg1256Thr
ENST00000682933.1:n.3886G>C
ENST00000683002.1:c.664G>C
ENST00000683072.1:n.4396G>C
ENST00000683080.1:n.1431G>C
ENST00000683125.1:c.3920G>C	ENSP00000507939.1:p.Arg1307Thr
ENST00000683213.1:c.3815G>C	ENSP00000507751.1:p.Arg1272Thr
ENST00000683220.1:c.3842G>C	ENSP00000507151.1:p.Arg1281Thr
ENST00000683329.1:n.4615G>C
ENST00000683346.1:c.*3687G>C	ENSP00000507458.1:n.*3687G>C
ENST00000683409.1:n.2419G>C
ENST00000683459.1:n.4399G>C
ENST00000683528.1:c.740G>C
ENST00000683590.1:c.3560G>C	ENSP00000506820.1:p.Arg1187Thr
ENST00000683623.1:c.3719G>C	ENSP00000507702.1:p.Arg1240Thr
ENST00000683645.1:n.4363G>C
ENST00000683796.1:c.*3684G>C	ENSP00000508221.1:n.*3684G>C
ENST00000683802.1:n.6737G>C
ENST00000683833.1:c.3803G>C	ENSP00000506852.1:p.Arg1268Thr
ENST00000683994.1:c.3812G>C	ENSP00000507181.1:p.Arg1271Thr
ENST00000684290.1:c.*1348G>C	ENSP00000507243.1:n.*1348G>C
ENST00000684306.1:c.*3725G>C	ENSP00000508384.1:n.*3725G>C
ENST00000684341.1:n.3832G>C
ENST00000684383.1:c.*3450G>C	ENSP00000506863.1:n.*3450G>C
ENST00000684418.1:n.4993G>C
ENST00000684433.1:n.196G>C
ENST00000684454.1:n.3162G>C
ENST00000684619.1:c.*3684G>C	ENSP00000508088.1:n.*3684G>C
ENST00000684743.1:n.6557G>C
ENST00000260665.12:c.3812G>C MANE Select	ENSP00000260665.7:p.Arg1271Thr
ENST00000260665.11:c.3812G>C	ENSP00000260665.7:p.Arg1271Thr
ENST00000419884.5:c.53G>C	ENSP00000414207.1:p.Arg18Thr
ENST00000463456.5:n.2855G>C
ENST00000472420.5:n.209G>C
ENST00000483489.1:n.286G>C
NM_133259.3:c.3812G>C	NP_573566.2:p.Arg1271Thr
XM_006711915.2:c.3734G>C	XP_006711978.1:p.Arg1245Thr
XM_011532473.1:c.3812G>C	XP_011530775.1:p.Arg1271Thr
XM_011532474.1:c.3812G>C	XP_011530776.1:p.Arg1271Thr
XM_017003117.1:c.3734G>C	XP_016858606.1:p.Arg1245Thr
XR_002958896.1:n.3854G>C
NM_133259.4:c.3812G>C MANE Select	NP_573566.2:p.Arg1271Thr