Canonical Allele Identifier: CA425909868

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1563566
• ClinVar RCV Id: RCV002216422
• dbSNP Id: rs1672640722
• MyVariant Identifiers: chr2:g.44172475G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945336G>A , CM000664.2:g.43945336G>A	GRCh38
NC_000002.11:g.44172475G>A , CM000664.1:g.44172475G>A	GRCh37
NC_000002.10:g.44025979G>A	NCBI36
NG_008247.1:g.55670C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2292C>T	ENSP00000386562.2:p.Leu764=
ENST00000447246.2:c.2292C>T	ENSP00000403637.2:p.Leu764=
ENST00000681961.1:n.2312C>T
ENST00000682104.1:c.2166C>T	ENSP00000507716.1:p.Leu722=
ENST00000682303.1:c.*2082+777C>T	ENSP00000508325.1:n.*2082+777C>T
ENST00000682308.1:c.2292C>T	ENSP00000507056.1:p.Leu764=
ENST00000682480.1:c.2292C>T	ENSP00000508344.1:p.Leu764=
ENST00000682546.1:c.2289C>T	ENSP00000508188.1:p.Leu763=
ENST00000682585.1:c.2292C>T	ENSP00000506885.1:p.Leu764=
ENST00000682595.1:n.2874C>T
ENST00000682607.1:c.710C>T
ENST00000682779.1:c.2283C>T	ENSP00000507947.1:p.Leu761=
ENST00000682885.1:c.2247C>T	ENSP00000508036.1:p.Leu749=
ENST00000682933.1:n.2366C>T
ENST00000683072.1:n.2874C>T
ENST00000683125.1:c.2292C>T	ENSP00000507939.1:p.Leu764=
ENST00000683213.1:c.2295C>T	ENSP00000507751.1:p.Leu765=
ENST00000683220.1:c.2322C>T	ENSP00000507151.1:p.Leu774=
ENST00000683329.1:n.3095C>T
ENST00000683346.1:c.*2167C>T	ENSP00000507458.1:n.*2167C>T
ENST00000683459.1:n.2879C>T
ENST00000683590.1:c.2292C>T	ENSP00000506820.1:p.Leu764=
ENST00000683623.1:c.2292C>T	ENSP00000507702.1:p.Leu764=
ENST00000683645.1:n.2843C>T
ENST00000683694.1:n.1043C>T
ENST00000683796.1:c.*2164C>T	ENSP00000508221.1:n.*2164C>T
ENST00000683802.1:n.5217C>T
ENST00000683833.1:c.2283C>T	ENSP00000506852.1:p.Leu761=
ENST00000683934.1:c.2178C>T
ENST00000683989.1:c.2292C>T	ENSP00000507510.1:p.Leu764=
ENST00000683994.1:c.2292C>T	ENSP00000507181.1:p.Leu764=
ENST00000684290.1:c.2210+777C>T	ENSP00000507243.1:n.2210+777C>T
ENST00000684306.1:c.*2205C>T	ENSP00000508384.1:n.*2205C>T
ENST00000684341.1:n.2312C>T
ENST00000684383.1:c.*1930C>T	ENSP00000506863.1:n.*1930C>T
ENST00000684619.1:c.*2164C>T	ENSP00000508088.1:n.*2164C>T
ENST00000684743.1:n.3323C>T
ENST00000260665.12:c.2292C>T MANE Select	ENSP00000260665.7:p.Leu764=
ENST00000260665.11:c.2292C>T	ENSP00000260665.7:p.Leu764=
NM_133259.3:c.2292C>T	NP_573566.2:p.Leu764=
XM_006711915.2:c.2214C>T	XP_006711978.1:p.Leu738=
XM_006711916.2:c.2292C>T	XP_006711979.1:p.Leu764=
XM_011532473.1:c.2292C>T	XP_011530775.1:p.Leu764=
XM_011532474.1:c.2292C>T	XP_011530776.1:p.Leu764=
XM_006711916.3:c.2292C>T	XP_006711979.1:p.Leu764=
XM_017003117.1:c.2214C>T	XP_016858606.1:p.Leu738=
XR_002958896.1:n.2334C>T
NM_133259.4:c.2292C>T MANE Select	NP_573566.2:p.Leu764=