Canonical Allele Identifier: CA346676444

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899250-C-T
• MyVariant Identifiers: chr2:g.44126389C>T (hg19) ; chr2:g.43899250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899250C>T , CM000664.2:g.43899250C>T	GRCh38
NC_000002.11:g.44126389C>T , CM000664.1:g.44126389C>T	GRCh37
NC_000002.10:g.43979893C>T	NCBI36
NG_008247.1:g.101756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.225G>A
ENST00000472420.6:n.873G>A
ENST00000483489.2:n.225G>A
ENST00000681993.1:n.1346G>A
ENST00000682303.1:c.*3580G>A	ENSP00000508325.1:n.*3580G>A
ENST00000682308.1:c.3794G>A	ENSP00000507056.1:p.Gly1265Asp
ENST00000682434.1:n.1345G>A
ENST00000682480.1:c.3812G>A	ENSP00000508344.1:p.Gly1271Asp
ENST00000682546.1:c.3791G>A	ENSP00000508188.1:p.Gly1264Asp
ENST00000682585.1:c.3794G>A	ENSP00000506885.1:p.Gly1265Asp
ENST00000682595.1:n.4378G>A
ENST00000682607.1:c.2212G>A
ENST00000682612.1:c.646G>A
ENST00000682779.1:c.3785G>A	ENSP00000507947.1:p.Gly1262Asp
ENST00000682845.1:n.2896G>A
ENST00000682885.1:c.3749G>A	ENSP00000508036.1:p.Gly1250Asp
ENST00000682933.1:n.3868G>A
ENST00000683002.1:c.646G>A
ENST00000683072.1:n.4378G>A
ENST00000683080.1:n.1413G>A
ENST00000683125.1:c.3902G>A	ENSP00000507939.1:p.Gly1301Asp
ENST00000683213.1:c.3797G>A	ENSP00000507751.1:p.Gly1266Asp
ENST00000683220.1:c.3824G>A	ENSP00000507151.1:p.Gly1275Asp
ENST00000683329.1:n.4597G>A
ENST00000683346.1:c.*3669G>A	ENSP00000507458.1:n.*3669G>A
ENST00000683409.1:n.2401G>A
ENST00000683459.1:n.4381G>A
ENST00000683528.1:c.722G>A
ENST00000683590.1:c.3542G>A	ENSP00000506820.1:p.Gly1181Asp
ENST00000683623.1:c.3701G>A	ENSP00000507702.1:p.Gly1234Asp
ENST00000683645.1:n.4345G>A
ENST00000683796.1:c.*3666G>A	ENSP00000508221.1:n.*3666G>A
ENST00000683802.1:n.6719G>A
ENST00000683833.1:c.3785G>A	ENSP00000506852.1:p.Gly1262Asp
ENST00000683994.1:c.3794G>A	ENSP00000507181.1:p.Gly1265Asp
ENST00000684290.1:c.*1330G>A	ENSP00000507243.1:n.*1330G>A
ENST00000684306.1:c.*3707G>A	ENSP00000508384.1:n.*3707G>A
ENST00000684341.1:n.3814G>A
ENST00000684383.1:c.*3432G>A	ENSP00000506863.1:n.*3432G>A
ENST00000684418.1:n.4975G>A
ENST00000684433.1:n.178G>A
ENST00000684454.1:n.3144G>A
ENST00000684619.1:c.*3666G>A	ENSP00000508088.1:n.*3666G>A
ENST00000684743.1:n.6539G>A
ENST00000260665.12:c.3794G>A MANE Select	ENSP00000260665.7:p.Gly1265Asp
ENST00000260665.11:c.3794G>A	ENSP00000260665.7:p.Gly1265Asp
ENST00000419884.5:c.35G>A	ENSP00000414207.1:p.Gly12Asp
ENST00000463456.5:n.2837G>A
ENST00000472420.5:n.191G>A
ENST00000483489.1:n.268G>A
NM_133259.3:c.3794G>A	NP_573566.2:p.Gly1265Asp
XM_006711915.2:c.3716G>A	XP_006711978.1:p.Gly1239Asp
XM_011532473.1:c.3794G>A	XP_011530775.1:p.Gly1265Asp
XM_011532474.1:c.3794G>A	XP_011530776.1:p.Gly1265Asp
XM_017003117.1:c.3716G>A	XP_016858606.1:p.Gly1239Asp
XR_002958896.1:n.3836G>A
NM_133259.4:c.3794G>A MANE Select	NP_573566.2:p.Gly1265Asp