Canonical Allele Identifier: CA425909257

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1117009
• ClinVar RCV Id: RCV001445574
• dbSNP Id: rs2104989192
• MyVariant Identifiers: chr2:g.44126385C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899246C>T , CM000664.2:g.43899246C>T	GRCh38
NC_000002.11:g.44126385C>T , CM000664.1:g.44126385C>T	GRCh37
NC_000002.10:g.43979889C>T	NCBI36
NG_008247.1:g.101760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.229G>A
ENST00000472420.6:n.877G>A
ENST00000483489.2:n.229G>A
ENST00000681993.1:n.1350G>A
ENST00000682303.1:c.*3584G>A	ENSP00000508325.1:n.*3584G>A
ENST00000682308.1:c.3798G>A	ENSP00000507056.1:p.Lys1266=
ENST00000682434.1:n.1349G>A
ENST00000682480.1:c.3816G>A	ENSP00000508344.1:p.Lys1272=
ENST00000682546.1:c.3795G>A	ENSP00000508188.1:p.Lys1265=
ENST00000682585.1:c.3798G>A	ENSP00000506885.1:p.Lys1266=
ENST00000682595.1:n.4382G>A
ENST00000682607.1:c.2216G>A
ENST00000682612.1:c.650G>A
ENST00000682779.1:c.3789G>A	ENSP00000507947.1:p.Lys1263=
ENST00000682845.1:n.2900G>A
ENST00000682885.1:c.3753G>A	ENSP00000508036.1:p.Lys1251=
ENST00000682933.1:n.3872G>A
ENST00000683002.1:c.650G>A
ENST00000683072.1:n.4382G>A
ENST00000683080.1:n.1417G>A
ENST00000683125.1:c.3906G>A	ENSP00000507939.1:p.Lys1302=
ENST00000683213.1:c.3801G>A	ENSP00000507751.1:p.Lys1267=
ENST00000683220.1:c.3828G>A	ENSP00000507151.1:p.Lys1276=
ENST00000683329.1:n.4601G>A
ENST00000683346.1:c.*3673G>A	ENSP00000507458.1:n.*3673G>A
ENST00000683409.1:n.2405G>A
ENST00000683459.1:n.4385G>A
ENST00000683528.1:c.726G>A
ENST00000683590.1:c.3546G>A	ENSP00000506820.1:p.Lys1182=
ENST00000683623.1:c.3705G>A	ENSP00000507702.1:p.Lys1235=
ENST00000683645.1:n.4349G>A
ENST00000683796.1:c.*3670G>A	ENSP00000508221.1:n.*3670G>A
ENST00000683802.1:n.6723G>A
ENST00000683833.1:c.3789G>A	ENSP00000506852.1:p.Lys1263=
ENST00000683994.1:c.3798G>A	ENSP00000507181.1:p.Lys1266=
ENST00000684290.1:c.*1334G>A	ENSP00000507243.1:n.*1334G>A
ENST00000684306.1:c.*3711G>A	ENSP00000508384.1:n.*3711G>A
ENST00000684341.1:n.3818G>A
ENST00000684383.1:c.*3436G>A	ENSP00000506863.1:n.*3436G>A
ENST00000684418.1:n.4979G>A
ENST00000684433.1:n.182G>A
ENST00000684454.1:n.3148G>A
ENST00000684619.1:c.*3670G>A	ENSP00000508088.1:n.*3670G>A
ENST00000684743.1:n.6543G>A
ENST00000260665.12:c.3798G>A MANE Select	ENSP00000260665.7:p.Lys1266=
ENST00000260665.11:c.3798G>A	ENSP00000260665.7:p.Lys1266=
ENST00000419884.5:c.39G>A	ENSP00000414207.1:p.Lys13=
ENST00000463456.5:n.2841G>A
ENST00000472420.5:n.195G>A
ENST00000483489.1:n.272G>A
NM_133259.3:c.3798G>A	NP_573566.2:p.Lys1266=
XM_006711915.2:c.3720G>A	XP_006711978.1:p.Lys1240=
XM_011532473.1:c.3798G>A	XP_011530775.1:p.Lys1266=
XM_011532474.1:c.3798G>A	XP_011530776.1:p.Lys1266=
XM_017003117.1:c.3720G>A	XP_016858606.1:p.Lys1240=
XR_002958896.1:n.3840G>A
NM_133259.4:c.3798G>A MANE Select	NP_573566.2:p.Lys1266=