Canonical Allele Identifier: CA346676760

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899329-T-C
• MyVariant Identifiers: chr2:g.44126468T>C (hg19) ; chr2:g.43899329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899329T>C , CM000664.2:g.43899329T>C	GRCh38
NC_000002.11:g.44126468T>C , CM000664.1:g.44126468T>C	GRCh37
NC_000002.10:g.43979972T>C	NCBI36
NG_008247.1:g.101677A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.146A>G
ENST00000472420.6:n.794A>G
ENST00000483489.2:n.146A>G
ENST00000681993.1:n.1267A>G
ENST00000682303.1:c.*3501A>G	ENSP00000508325.1:n.*3501A>G
ENST00000682308.1:c.3715A>G	ENSP00000507056.1:p.Ile1239Val
ENST00000682434.1:n.1266A>G
ENST00000682480.1:c.3733A>G	ENSP00000508344.1:p.Ile1245Val
ENST00000682546.1:c.3712A>G	ENSP00000508188.1:p.Ile1238Val
ENST00000682585.1:c.3715A>G	ENSP00000506885.1:p.Ile1239Val
ENST00000682595.1:n.4299A>G
ENST00000682607.1:c.2133A>G
ENST00000682612.1:c.567A>G
ENST00000682779.1:c.3706A>G	ENSP00000507947.1:p.Ile1236Val
ENST00000682845.1:n.2817A>G
ENST00000682885.1:c.3670A>G	ENSP00000508036.1:p.Ile1224Val
ENST00000682933.1:n.3789A>G
ENST00000683002.1:c.567A>G
ENST00000683072.1:n.4299A>G
ENST00000683080.1:n.1334A>G
ENST00000683125.1:c.3823A>G	ENSP00000507939.1:p.Ile1275Val
ENST00000683213.1:c.3718A>G	ENSP00000507751.1:p.Ile1240Val
ENST00000683220.1:c.3745A>G	ENSP00000507151.1:p.Ile1249Val
ENST00000683329.1:n.4518A>G
ENST00000683346.1:c.*3590A>G	ENSP00000507458.1:n.*3590A>G
ENST00000683409.1:n.2322A>G
ENST00000683459.1:n.4302A>G
ENST00000683528.1:c.643A>G
ENST00000683590.1:c.3463A>G	ENSP00000506820.1:p.Ile1155Val
ENST00000683623.1:c.3622A>G	ENSP00000507702.1:p.Ile1208Val
ENST00000683645.1:n.4266A>G
ENST00000683796.1:c.*3587A>G	ENSP00000508221.1:n.*3587A>G
ENST00000683802.1:n.6640A>G
ENST00000683833.1:c.3706A>G	ENSP00000506852.1:p.Ile1236Val
ENST00000683994.1:c.3715A>G	ENSP00000507181.1:p.Ile1239Val
ENST00000684290.1:c.*1251A>G	ENSP00000507243.1:n.*1251A>G
ENST00000684306.1:c.*3628A>G	ENSP00000508384.1:n.*3628A>G
ENST00000684341.1:n.3735A>G
ENST00000684383.1:c.*3353A>G	ENSP00000506863.1:n.*3353A>G
ENST00000684418.1:n.4896A>G
ENST00000684433.1:n.99A>G
ENST00000684454.1:n.3065A>G
ENST00000684619.1:c.*3587A>G	ENSP00000508088.1:n.*3587A>G
ENST00000684743.1:n.6460A>G
ENST00000260665.12:c.3715A>G MANE Select	ENSP00000260665.7:p.Ile1239Val
ENST00000260665.11:c.3715A>G	ENSP00000260665.7:p.Ile1239Val
ENST00000463456.5:n.2758A>G
ENST00000472420.5:n.112A>G
ENST00000483489.1:n.189A>G
NM_133259.3:c.3715A>G	NP_573566.2:p.Ile1239Val
XM_006711915.2:c.3637A>G	XP_006711978.1:p.Ile1213Val
XM_011532473.1:c.3715A>G	XP_011530775.1:p.Ile1239Val
XM_011532474.1:c.3715A>G	XP_011530776.1:p.Ile1239Val
XM_017003117.1:c.3637A>G	XP_016858606.1:p.Ile1213Val
XR_002958896.1:n.3757A>G
NM_133259.4:c.3715A>G MANE Select	NP_573566.2:p.Ile1239Val