Canonical Allele Identifier: CA346676652

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2792616
• ClinVar RCV Id: RCV003667344
• MyVariant Identifiers: chr2:g.44126440A>C (hg19) ; chr2:g.43899301A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899301A>C , CM000664.2:g.43899301A>C	GRCh38
NC_000002.11:g.44126440A>C , CM000664.1:g.44126440A>C	GRCh37
NC_000002.10:g.43979944A>C	NCBI36
NG_008247.1:g.101705T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.174T>G
ENST00000472420.6:n.822T>G
ENST00000483489.2:n.174T>G
ENST00000681993.1:n.1295T>G
ENST00000682303.1:c.*3529T>G	ENSP00000508325.1:n.*3529T>G
ENST00000682308.1:c.3743T>G	ENSP00000507056.1:p.Phe1248Cys
ENST00000682434.1:n.1294T>G
ENST00000682480.1:c.3761T>G	ENSP00000508344.1:p.Phe1254Cys
ENST00000682546.1:c.3740T>G	ENSP00000508188.1:p.Phe1247Cys
ENST00000682585.1:c.3743T>G	ENSP00000506885.1:p.Phe1248Cys
ENST00000682595.1:n.4327T>G
ENST00000682607.1:c.2161T>G
ENST00000682612.1:c.595T>G
ENST00000682779.1:c.3734T>G	ENSP00000507947.1:p.Phe1245Cys
ENST00000682845.1:n.2845T>G
ENST00000682885.1:c.3698T>G	ENSP00000508036.1:p.Phe1233Cys
ENST00000682933.1:n.3817T>G
ENST00000683002.1:c.595T>G
ENST00000683072.1:n.4327T>G
ENST00000683080.1:n.1362T>G
ENST00000683125.1:c.3851T>G	ENSP00000507939.1:p.Phe1284Cys
ENST00000683213.1:c.3746T>G	ENSP00000507751.1:p.Phe1249Cys
ENST00000683220.1:c.3773T>G	ENSP00000507151.1:p.Phe1258Cys
ENST00000683329.1:n.4546T>G
ENST00000683346.1:c.*3618T>G	ENSP00000507458.1:n.*3618T>G
ENST00000683409.1:n.2350T>G
ENST00000683459.1:n.4330T>G
ENST00000683528.1:c.671T>G
ENST00000683590.1:c.3491T>G	ENSP00000506820.1:p.Phe1164Cys
ENST00000683623.1:c.3650T>G	ENSP00000507702.1:p.Phe1217Cys
ENST00000683645.1:n.4294T>G
ENST00000683796.1:c.*3615T>G	ENSP00000508221.1:n.*3615T>G
ENST00000683802.1:n.6668T>G
ENST00000683833.1:c.3734T>G	ENSP00000506852.1:p.Phe1245Cys
ENST00000683994.1:c.3743T>G	ENSP00000507181.1:p.Phe1248Cys
ENST00000684290.1:c.*1279T>G	ENSP00000507243.1:n.*1279T>G
ENST00000684306.1:c.*3656T>G	ENSP00000508384.1:n.*3656T>G
ENST00000684341.1:n.3763T>G
ENST00000684383.1:c.*3381T>G	ENSP00000506863.1:n.*3381T>G
ENST00000684418.1:n.4924T>G
ENST00000684433.1:n.127T>G
ENST00000684454.1:n.3093T>G
ENST00000684619.1:c.*3615T>G	ENSP00000508088.1:n.*3615T>G
ENST00000684743.1:n.6488T>G
ENST00000260665.12:c.3743T>G MANE Select	ENSP00000260665.7:p.Phe1248Cys
ENST00000260665.11:c.3743T>G	ENSP00000260665.7:p.Phe1248Cys
ENST00000463456.5:n.2786T>G
ENST00000472420.5:n.140T>G
ENST00000483489.1:n.217T>G
NM_133259.3:c.3743T>G	NP_573566.2:p.Phe1248Cys
XM_006711915.2:c.3665T>G	XP_006711978.1:p.Phe1222Cys
XM_011532473.1:c.3743T>G	XP_011530775.1:p.Phe1248Cys
XM_011532474.1:c.3743T>G	XP_011530776.1:p.Phe1248Cys
XM_017003117.1:c.3665T>G	XP_016858606.1:p.Phe1222Cys
XR_002958896.1:n.3785T>G
NM_133259.4:c.3743T>G MANE Select	NP_573566.2:p.Phe1248Cys