Canonical Allele Identifier: CA346668559

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145478C>T (hg19) ; chr2:g.43918339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918339C>T , CM000664.2:g.43918339C>T	GRCh38
NC_000002.11:g.44145478C>T , CM000664.1:g.44145478C>T	GRCh37
NC_000002.10:g.43998982C>T	NCBI36
NG_008247.1:g.82667G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681993.1:n.508G>A
ENST00000682295.1:c.220G>A	ENSP00000507499.1:p.Val74Ile
ENST00000682303.1:c.*2742G>A	ENSP00000508325.1:n.*2742G>A
ENST00000682308.1:c.2956G>A	ENSP00000507056.1:p.Val986Ile
ENST00000682480.1:c.2956G>A	ENSP00000508344.1:p.Val986Ile
ENST00000682546.1:c.2953G>A	ENSP00000508188.1:p.Val985Ile
ENST00000682585.1:c.2956G>A	ENSP00000506885.1:p.Val986Ile
ENST00000682595.1:n.3540G>A
ENST00000682607.1:c.1374G>A
ENST00000682779.1:c.2947G>A	ENSP00000507947.1:p.Val983Ile
ENST00000682845.1:n.2058G>A
ENST00000682885.1:c.2911G>A	ENSP00000508036.1:p.Val971Ile
ENST00000682933.1:n.3030G>A
ENST00000683072.1:n.3540G>A
ENST00000683080.1:n.575G>A
ENST00000683125.1:c.3064G>A	ENSP00000507939.1:p.Val1022Ile
ENST00000683213.1:c.2959G>A	ENSP00000507751.1:p.Val987Ile
ENST00000683220.1:c.2986G>A	ENSP00000507151.1:p.Val996Ile
ENST00000683236.1:c.286G>A	ENSP00000506891.1:n.286G>A
ENST00000683329.1:n.3759G>A
ENST00000683346.1:c.*2831G>A	ENSP00000507458.1:n.*2831G>A
ENST00000683409.1:n.1563G>A
ENST00000683459.1:n.3543G>A
ENST00000683590.1:c.2897-5781G>A	ENSP00000506820.1:n.2897-5781G>A
ENST00000683623.1:c.2863G>A	ENSP00000507702.1:p.Val955Ile
ENST00000683645.1:n.3507G>A
ENST00000683796.1:c.*2828G>A	ENSP00000508221.1:n.*2828G>A
ENST00000683802.1:n.5881G>A
ENST00000683833.1:c.2947G>A	ENSP00000506852.1:p.Val983Ile
ENST00000683994.1:c.2956G>A	ENSP00000507181.1:p.Val986Ile
ENST00000684290.1:c.*492G>A	ENSP00000507243.1:n.*492G>A
ENST00000684306.1:c.*2869G>A	ENSP00000508384.1:n.*2869G>A
ENST00000684341.1:n.2976G>A
ENST00000684383.1:c.*2594G>A	ENSP00000506863.1:n.*2594G>A
ENST00000684619.1:c.*2828G>A	ENSP00000508088.1:n.*2828G>A
ENST00000684705.1:n.77G>A
ENST00000684743.1:n.3987G>A
ENST00000260665.12:c.2956G>A MANE Select	ENSP00000260665.7:p.Val986Ile
ENST00000260665.11:c.2956G>A	ENSP00000260665.7:p.Val986Ile
NM_133259.3:c.2956G>A	NP_573566.2:p.Val986Ile
XM_006711915.2:c.2878G>A	XP_006711978.1:p.Val960Ile
XM_006711916.2:c.2956G>A	XP_006711979.1:p.Val986Ile
XM_011532473.1:c.2956G>A	XP_011530775.1:p.Val986Ile
XM_011532474.1:c.2956G>A	XP_011530776.1:p.Val986Ile
XM_006711916.3:c.2956G>A	XP_006711979.1:p.Val986Ile
XM_017003117.1:c.2878G>A	XP_016858606.1:p.Val960Ile
XR_002958896.1:n.2998G>A
NM_133259.4:c.2956G>A MANE Select	NP_573566.2:p.Val986Ile