Canonical Allele Identifier: CA346668408

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145407A>C (hg19) ; chr2:g.43918268A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918268A>C , CM000664.2:g.43918268A>C	GRCh38
NC_000002.11:g.44145407A>C , CM000664.1:g.44145407A>C	GRCh37
NC_000002.10:g.43998911A>C	NCBI36
NG_008247.1:g.82738T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.579T>G
ENST00000682295.1:c.291T>G	ENSP00000507499.1:p.Phe97Leu
ENST00000682303.1:c.*2813T>G	ENSP00000508325.1:n.*2813T>G
ENST00000682308.1:c.3027T>G	ENSP00000507056.1:p.Phe1009Leu
ENST00000682480.1:c.3027T>G	ENSP00000508344.1:p.Phe1009Leu
ENST00000682546.1:c.3024T>G	ENSP00000508188.1:p.Phe1008Leu
ENST00000682585.1:c.3027T>G	ENSP00000506885.1:p.Phe1009Leu
ENST00000682595.1:n.3611T>G
ENST00000682607.1:c.1445T>G
ENST00000682779.1:c.3018T>G	ENSP00000507947.1:p.Phe1006Leu
ENST00000682845.1:n.2129T>G
ENST00000682885.1:c.2982T>G	ENSP00000508036.1:p.Phe994Leu
ENST00000682933.1:n.3101T>G
ENST00000683072.1:n.3611T>G
ENST00000683080.1:n.646T>G
ENST00000683125.1:c.3135T>G	ENSP00000507939.1:p.Phe1045Leu
ENST00000683213.1:c.3030T>G	ENSP00000507751.1:p.Phe1010Leu
ENST00000683220.1:c.3057T>G	ENSP00000507151.1:p.Phe1019Leu
ENST00000683236.1:c.357T>G	ENSP00000506891.1:n.357T>G
ENST00000683329.1:n.3830T>G
ENST00000683346.1:c.*2902T>G	ENSP00000507458.1:n.*2902T>G
ENST00000683409.1:n.1634T>G
ENST00000683459.1:n.3614T>G
ENST00000683590.1:c.2897-5710T>G	ENSP00000506820.1:n.2897-5710T>G
ENST00000683623.1:c.2934T>G	ENSP00000507702.1:p.Phe978Leu
ENST00000683645.1:n.3578T>G
ENST00000683796.1:c.*2899T>G	ENSP00000508221.1:n.*2899T>G
ENST00000683802.1:n.5952T>G
ENST00000683833.1:c.3018T>G	ENSP00000506852.1:p.Phe1006Leu
ENST00000683994.1:c.3027T>G	ENSP00000507181.1:p.Phe1009Leu
ENST00000684290.1:c.*563T>G	ENSP00000507243.1:n.*563T>G
ENST00000684306.1:c.*2940T>G	ENSP00000508384.1:n.*2940T>G
ENST00000684341.1:n.3047T>G
ENST00000684383.1:c.*2665T>G	ENSP00000506863.1:n.*2665T>G
ENST00000684619.1:c.*2899T>G	ENSP00000508088.1:n.*2899T>G
ENST00000684705.1:n.148T>G
ENST00000684743.1:n.4058T>G
ENST00000260665.12:c.3027T>G MANE Select	ENSP00000260665.7:p.Phe1009Leu
ENST00000260665.11:c.3027T>G	ENSP00000260665.7:p.Phe1009Leu
NM_133259.3:c.3027T>G	NP_573566.2:p.Phe1009Leu
XM_006711915.2:c.2949T>G	XP_006711978.1:p.Phe983Leu
XM_006711916.2:c.3027T>G	XP_006711979.1:p.Phe1009Leu
XM_011532473.1:c.3027T>G	XP_011530775.1:p.Phe1009Leu
XM_011532474.1:c.3027T>G	XP_011530776.1:p.Phe1009Leu
XM_006711916.3:c.3027T>G	XP_006711979.1:p.Phe1009Leu
XM_017003117.1:c.2949T>G	XP_016858606.1:p.Phe983Leu
XR_002958896.1:n.3069T>G
NM_133259.4:c.3027T>G MANE Select	NP_573566.2:p.Phe1009Leu