Canonical Allele Identifier: CA346676769

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899333-T-C
• MyVariant Identifiers: chr2:g.44126472T>C (hg19) ; chr2:g.43899333T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899333T>C , CM000664.2:g.43899333T>C	GRCh38
NC_000002.11:g.44126472T>C , CM000664.1:g.44126472T>C	GRCh37
NC_000002.10:g.43979976T>C	NCBI36
NG_008247.1:g.101673A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.142A>G
ENST00000472420.6:n.790A>G
ENST00000483489.2:n.142A>G
ENST00000681993.1:n.1263A>G
ENST00000682303.1:c.*3497A>G	ENSP00000508325.1:n.*3497A>G
ENST00000682308.1:c.3711A>G	ENSP00000507056.1:p.Ile1237Met
ENST00000682434.1:n.1262A>G
ENST00000682480.1:c.3729A>G	ENSP00000508344.1:p.Ile1243Met
ENST00000682546.1:c.3708A>G	ENSP00000508188.1:p.Ile1236Met
ENST00000682585.1:c.3711A>G	ENSP00000506885.1:p.Ile1237Met
ENST00000682595.1:n.4295A>G
ENST00000682607.1:c.2129A>G
ENST00000682612.1:c.563A>G
ENST00000682779.1:c.3702A>G	ENSP00000507947.1:p.Ile1234Met
ENST00000682845.1:n.2813A>G
ENST00000682885.1:c.3666A>G	ENSP00000508036.1:p.Ile1222Met
ENST00000682933.1:n.3785A>G
ENST00000683002.1:c.563A>G
ENST00000683072.1:n.4295A>G
ENST00000683080.1:n.1330A>G
ENST00000683125.1:c.3819A>G	ENSP00000507939.1:p.Ile1273Met
ENST00000683213.1:c.3714A>G	ENSP00000507751.1:p.Ile1238Met
ENST00000683220.1:c.3741A>G	ENSP00000507151.1:p.Ile1247Met
ENST00000683329.1:n.4514A>G
ENST00000683346.1:c.*3586A>G	ENSP00000507458.1:n.*3586A>G
ENST00000683409.1:n.2318A>G
ENST00000683459.1:n.4298A>G
ENST00000683528.1:c.639A>G
ENST00000683590.1:c.3459A>G	ENSP00000506820.1:p.Ile1153Met
ENST00000683623.1:c.3618A>G	ENSP00000507702.1:p.Ile1206Met
ENST00000683645.1:n.4262A>G
ENST00000683796.1:c.*3583A>G	ENSP00000508221.1:n.*3583A>G
ENST00000683802.1:n.6636A>G
ENST00000683833.1:c.3702A>G	ENSP00000506852.1:p.Ile1234Met
ENST00000683994.1:c.3711A>G	ENSP00000507181.1:p.Ile1237Met
ENST00000684290.1:c.*1247A>G	ENSP00000507243.1:n.*1247A>G
ENST00000684306.1:c.*3624A>G	ENSP00000508384.1:n.*3624A>G
ENST00000684341.1:n.3731A>G
ENST00000684383.1:c.*3349A>G	ENSP00000506863.1:n.*3349A>G
ENST00000684418.1:n.4892A>G
ENST00000684433.1:n.95A>G
ENST00000684454.1:n.3061A>G
ENST00000684619.1:c.*3583A>G	ENSP00000508088.1:n.*3583A>G
ENST00000684743.1:n.6456A>G
ENST00000260665.12:c.3711A>G MANE Select	ENSP00000260665.7:p.Ile1237Met
ENST00000260665.11:c.3711A>G	ENSP00000260665.7:p.Ile1237Met
ENST00000463456.5:n.2754A>G
ENST00000472420.5:n.108A>G
ENST00000483489.1:n.185A>G
NM_133259.3:c.3711A>G	NP_573566.2:p.Ile1237Met
XM_006711915.2:c.3633A>G	XP_006711978.1:p.Ile1211Met
XM_011532473.1:c.3711A>G	XP_011530775.1:p.Ile1237Met
XM_011532474.1:c.3711A>G	XP_011530776.1:p.Ile1237Met
XM_017003117.1:c.3633A>G	XP_016858606.1:p.Ile1211Met
XR_002958896.1:n.3753A>G
NM_133259.4:c.3711A>G MANE Select	NP_573566.2:p.Ile1237Met