Canonical Allele Identifier: CA346676696

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126450C>G (hg19) ; chr2:g.43899311C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899311C>G , CM000664.2:g.43899311C>G	GRCh38
NC_000002.11:g.44126450C>G , CM000664.1:g.44126450C>G	GRCh37
NC_000002.10:g.43979954C>G	NCBI36
NG_008247.1:g.101695G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.164G>C
ENST00000472420.6:n.812G>C
ENST00000483489.2:n.164G>C
ENST00000681993.1:n.1285G>C
ENST00000682303.1:c.*3519G>C	ENSP00000508325.1:n.*3519G>C
ENST00000682308.1:c.3733G>C	ENSP00000507056.1:p.Ala1245Pro
ENST00000682434.1:n.1284G>C
ENST00000682480.1:c.3751G>C	ENSP00000508344.1:p.Ala1251Pro
ENST00000682546.1:c.3730G>C	ENSP00000508188.1:p.Ala1244Pro
ENST00000682585.1:c.3733G>C	ENSP00000506885.1:p.Ala1245Pro
ENST00000682595.1:n.4317G>C
ENST00000682607.1:c.2151G>C
ENST00000682612.1:c.585G>C
ENST00000682779.1:c.3724G>C	ENSP00000507947.1:p.Ala1242Pro
ENST00000682845.1:n.2835G>C
ENST00000682885.1:c.3688G>C	ENSP00000508036.1:p.Ala1230Pro
ENST00000682933.1:n.3807G>C
ENST00000683002.1:c.585G>C
ENST00000683072.1:n.4317G>C
ENST00000683080.1:n.1352G>C
ENST00000683125.1:c.3841G>C	ENSP00000507939.1:p.Ala1281Pro
ENST00000683213.1:c.3736G>C	ENSP00000507751.1:p.Ala1246Pro
ENST00000683220.1:c.3763G>C	ENSP00000507151.1:p.Ala1255Pro
ENST00000683329.1:n.4536G>C
ENST00000683346.1:c.*3608G>C	ENSP00000507458.1:n.*3608G>C
ENST00000683409.1:n.2340G>C
ENST00000683459.1:n.4320G>C
ENST00000683528.1:c.661G>C
ENST00000683590.1:c.3481G>C	ENSP00000506820.1:p.Ala1161Pro
ENST00000683623.1:c.3640G>C	ENSP00000507702.1:p.Ala1214Pro
ENST00000683645.1:n.4284G>C
ENST00000683796.1:c.*3605G>C	ENSP00000508221.1:n.*3605G>C
ENST00000683802.1:n.6658G>C
ENST00000683833.1:c.3724G>C	ENSP00000506852.1:p.Ala1242Pro
ENST00000683994.1:c.3733G>C	ENSP00000507181.1:p.Ala1245Pro
ENST00000684290.1:c.*1269G>C	ENSP00000507243.1:n.*1269G>C
ENST00000684306.1:c.*3646G>C	ENSP00000508384.1:n.*3646G>C
ENST00000684341.1:n.3753G>C
ENST00000684383.1:c.*3371G>C	ENSP00000506863.1:n.*3371G>C
ENST00000684418.1:n.4914G>C
ENST00000684433.1:n.117G>C
ENST00000684454.1:n.3083G>C
ENST00000684619.1:c.*3605G>C	ENSP00000508088.1:n.*3605G>C
ENST00000684743.1:n.6478G>C
ENST00000260665.12:c.3733G>C MANE Select	ENSP00000260665.7:p.Ala1245Pro
ENST00000260665.11:c.3733G>C	ENSP00000260665.7:p.Ala1245Pro
ENST00000463456.5:n.2776G>C
ENST00000472420.5:n.130G>C
ENST00000483489.1:n.207G>C
NM_133259.3:c.3733G>C	NP_573566.2:p.Ala1245Pro
XM_006711915.2:c.3655G>C	XP_006711978.1:p.Ala1219Pro
XM_011532473.1:c.3733G>C	XP_011530775.1:p.Ala1245Pro
XM_011532474.1:c.3733G>C	XP_011530776.1:p.Ala1245Pro
XM_017003117.1:c.3655G>C	XP_016858606.1:p.Ala1219Pro
XR_002958896.1:n.3775G>C
NM_133259.4:c.3733G>C MANE Select	NP_573566.2:p.Ala1245Pro