Canonical Allele Identifier: CA346676556

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126416T>G (hg19) ; chr2:g.43899277T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899277T>G , CM000664.2:g.43899277T>G	GRCh38
NC_000002.11:g.44126416T>G , CM000664.1:g.44126416T>G	GRCh37
NC_000002.10:g.43979920T>G	NCBI36
NG_008247.1:g.101729A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.198A>C
ENST00000472420.6:n.846A>C
ENST00000483489.2:n.198A>C
ENST00000681993.1:n.1319A>C
ENST00000682303.1:c.*3553A>C	ENSP00000508325.1:n.*3553A>C
ENST00000682308.1:c.3767A>C	ENSP00000507056.1:p.Asp1256Ala
ENST00000682434.1:n.1318A>C
ENST00000682480.1:c.3785A>C	ENSP00000508344.1:p.Asp1262Ala
ENST00000682546.1:c.3764A>C	ENSP00000508188.1:p.Asp1255Ala
ENST00000682585.1:c.3767A>C	ENSP00000506885.1:p.Asp1256Ala
ENST00000682595.1:n.4351A>C
ENST00000682607.1:c.2185A>C
ENST00000682612.1:c.619A>C
ENST00000682779.1:c.3758A>C	ENSP00000507947.1:p.Asp1253Ala
ENST00000682845.1:n.2869A>C
ENST00000682885.1:c.3722A>C	ENSP00000508036.1:p.Asp1241Ala
ENST00000682933.1:n.3841A>C
ENST00000683002.1:c.619A>C
ENST00000683072.1:n.4351A>C
ENST00000683080.1:n.1386A>C
ENST00000683125.1:c.3875A>C	ENSP00000507939.1:p.Asp1292Ala
ENST00000683213.1:c.3770A>C	ENSP00000507751.1:p.Asp1257Ala
ENST00000683220.1:c.3797A>C	ENSP00000507151.1:p.Asp1266Ala
ENST00000683329.1:n.4570A>C
ENST00000683346.1:c.*3642A>C	ENSP00000507458.1:n.*3642A>C
ENST00000683409.1:n.2374A>C
ENST00000683459.1:n.4354A>C
ENST00000683528.1:c.695A>C
ENST00000683590.1:c.3515A>C	ENSP00000506820.1:p.Asp1172Ala
ENST00000683623.1:c.3674A>C	ENSP00000507702.1:p.Asp1225Ala
ENST00000683645.1:n.4318A>C
ENST00000683796.1:c.*3639A>C	ENSP00000508221.1:n.*3639A>C
ENST00000683802.1:n.6692A>C
ENST00000683833.1:c.3758A>C	ENSP00000506852.1:p.Asp1253Ala
ENST00000683994.1:c.3767A>C	ENSP00000507181.1:p.Asp1256Ala
ENST00000684290.1:c.*1303A>C	ENSP00000507243.1:n.*1303A>C
ENST00000684306.1:c.*3680A>C	ENSP00000508384.1:n.*3680A>C
ENST00000684341.1:n.3787A>C
ENST00000684383.1:c.*3405A>C	ENSP00000506863.1:n.*3405A>C
ENST00000684418.1:n.4948A>C
ENST00000684433.1:n.151A>C
ENST00000684454.1:n.3117A>C
ENST00000684619.1:c.*3639A>C	ENSP00000508088.1:n.*3639A>C
ENST00000684743.1:n.6512A>C
ENST00000260665.12:c.3767A>C MANE Select	ENSP00000260665.7:p.Asp1256Ala
ENST00000260665.11:c.3767A>C	ENSP00000260665.7:p.Asp1256Ala
ENST00000419884.5:c.8A>C	ENSP00000414207.1:p.Asp3Ala
ENST00000463456.5:n.2810A>C
ENST00000472420.5:n.164A>C
ENST00000483489.1:n.241A>C
NM_133259.3:c.3767A>C	NP_573566.2:p.Asp1256Ala
XM_006711915.2:c.3689A>C	XP_006711978.1:p.Asp1230Ala
XM_011532473.1:c.3767A>C	XP_011530775.1:p.Asp1256Ala
XM_011532474.1:c.3767A>C	XP_011530776.1:p.Asp1256Ala
XM_017003117.1:c.3689A>C	XP_016858606.1:p.Asp1230Ala
XR_002958896.1:n.3809A>C
NM_133259.4:c.3767A>C MANE Select	NP_573566.2:p.Asp1256Ala