Canonical Allele Identifier: CA346676405

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126381C>A (hg19) ; chr2:g.43899242C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899242C>A , CM000664.2:g.43899242C>A	GRCh38
NC_000002.11:g.44126381C>A , CM000664.1:g.44126381C>A	GRCh37
NC_000002.10:g.43979885C>A	NCBI36
NG_008247.1:g.101764G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.233G>T
ENST00000472420.6:n.881G>T
ENST00000483489.2:n.233G>T
ENST00000681993.1:n.1354G>T
ENST00000682303.1:c.*3588G>T	ENSP00000508325.1:n.*3588G>T
ENST00000682308.1:c.3802G>T	ENSP00000507056.1:p.Asp1268Tyr
ENST00000682434.1:n.1353G>T
ENST00000682480.1:c.3820G>T	ENSP00000508344.1:p.Asp1274Tyr
ENST00000682546.1:c.3799G>T	ENSP00000508188.1:p.Asp1267Tyr
ENST00000682585.1:c.3802G>T	ENSP00000506885.1:p.Asp1268Tyr
ENST00000682595.1:n.4386G>T
ENST00000682607.1:c.2220G>T
ENST00000682612.1:c.654G>T
ENST00000682779.1:c.3793G>T	ENSP00000507947.1:p.Asp1265Tyr
ENST00000682885.1:c.3757G>T	ENSP00000508036.1:p.Asp1253Tyr
ENST00000682933.1:n.3876G>T
ENST00000683002.1:c.654G>T
ENST00000683072.1:n.4386G>T
ENST00000683080.1:n.1421G>T
ENST00000683125.1:c.3910G>T	ENSP00000507939.1:p.Asp1304Tyr
ENST00000683213.1:c.3805G>T	ENSP00000507751.1:p.Asp1269Tyr
ENST00000683220.1:c.3832G>T	ENSP00000507151.1:p.Asp1278Tyr
ENST00000683329.1:n.4605G>T
ENST00000683346.1:c.*3677G>T	ENSP00000507458.1:n.*3677G>T
ENST00000683409.1:n.2409G>T
ENST00000683459.1:n.4389G>T
ENST00000683528.1:c.730G>T
ENST00000683590.1:c.3550G>T	ENSP00000506820.1:p.Asp1184Tyr
ENST00000683623.1:c.3709G>T	ENSP00000507702.1:p.Asp1237Tyr
ENST00000683645.1:n.4353G>T
ENST00000683796.1:c.*3674G>T	ENSP00000508221.1:n.*3674G>T
ENST00000683802.1:n.6727G>T
ENST00000683833.1:c.3793G>T	ENSP00000506852.1:p.Asp1265Tyr
ENST00000683994.1:c.3802G>T	ENSP00000507181.1:p.Asp1268Tyr
ENST00000684290.1:c.*1338G>T	ENSP00000507243.1:n.*1338G>T
ENST00000684306.1:c.*3715G>T	ENSP00000508384.1:n.*3715G>T
ENST00000684341.1:n.3822G>T
ENST00000684383.1:c.*3440G>T	ENSP00000506863.1:n.*3440G>T
ENST00000684418.1:n.4983G>T
ENST00000684433.1:n.186G>T
ENST00000684454.1:n.3152G>T
ENST00000684619.1:c.*3674G>T	ENSP00000508088.1:n.*3674G>T
ENST00000684743.1:n.6547G>T
ENST00000260665.12:c.3802G>T MANE Select	ENSP00000260665.7:p.Asp1268Tyr
ENST00000260665.11:c.3802G>T	ENSP00000260665.7:p.Asp1268Tyr
ENST00000419884.5:c.43G>T	ENSP00000414207.1:p.Asp15Tyr
ENST00000463456.5:n.2845G>T
ENST00000472420.5:n.199G>T
ENST00000483489.1:n.276G>T
NM_133259.3:c.3802G>T	NP_573566.2:p.Asp1268Tyr
XM_006711915.2:c.3724G>T	XP_006711978.1:p.Asp1242Tyr
XM_011532473.1:c.3802G>T	XP_011530775.1:p.Asp1268Tyr
XM_011532474.1:c.3802G>T	XP_011530776.1:p.Asp1268Tyr
XM_017003117.1:c.3724G>T	XP_016858606.1:p.Asp1242Tyr
XR_002958896.1:n.3844G>T
NM_133259.4:c.3802G>T MANE Select	NP_573566.2:p.Asp1268Tyr