Canonical Allele Identifier: CA346668387

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145397C>A (hg19) ; chr2:g.43918258C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918258C>A , CM000664.2:g.43918258C>A	GRCh38
NC_000002.11:g.44145397C>A , CM000664.1:g.44145397C>A	GRCh37
NC_000002.10:g.43998901C>A	NCBI36
NG_008247.1:g.82748G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.589G>T
ENST00000682295.1:c.301G>T	ENSP00000507499.1:p.Glu101Ter
ENST00000682303.1:c.*2823G>T	ENSP00000508325.1:n.*2823G>T
ENST00000682308.1:c.3037G>T	ENSP00000507056.1:p.Glu1013Ter
ENST00000682480.1:c.3037G>T	ENSP00000508344.1:p.Glu1013Ter
ENST00000682546.1:c.3034G>T	ENSP00000508188.1:p.Glu1012Ter
ENST00000682585.1:c.3037G>T	ENSP00000506885.1:p.Glu1013Ter
ENST00000682595.1:n.3621G>T
ENST00000682607.1:c.1455G>T
ENST00000682779.1:c.3028G>T	ENSP00000507947.1:p.Glu1010Ter
ENST00000682845.1:n.2139G>T
ENST00000682885.1:c.2992G>T	ENSP00000508036.1:p.Glu998Ter
ENST00000682933.1:n.3111G>T
ENST00000683072.1:n.3621G>T
ENST00000683080.1:n.656G>T
ENST00000683125.1:c.3145G>T	ENSP00000507939.1:p.Glu1049Ter
ENST00000683213.1:c.3040G>T	ENSP00000507751.1:p.Glu1014Ter
ENST00000683220.1:c.3067G>T	ENSP00000507151.1:p.Glu1023Ter
ENST00000683236.1:c.367G>T	ENSP00000506891.1:n.367G>T
ENST00000683329.1:n.3840G>T
ENST00000683346.1:c.*2912G>T	ENSP00000507458.1:n.*2912G>T
ENST00000683409.1:n.1644G>T
ENST00000683459.1:n.3624G>T
ENST00000683590.1:c.2897-5700G>T	ENSP00000506820.1:n.2897-5700G>T
ENST00000683623.1:c.2944G>T	ENSP00000507702.1:p.Glu982Ter
ENST00000683645.1:n.3588G>T
ENST00000683796.1:c.*2909G>T	ENSP00000508221.1:n.*2909G>T
ENST00000683802.1:n.5962G>T
ENST00000683833.1:c.3028G>T	ENSP00000506852.1:p.Glu1010Ter
ENST00000683994.1:c.3037G>T	ENSP00000507181.1:p.Glu1013Ter
ENST00000684290.1:c.*573G>T	ENSP00000507243.1:n.*573G>T
ENST00000684306.1:c.*2950G>T	ENSP00000508384.1:n.*2950G>T
ENST00000684341.1:n.3057G>T
ENST00000684383.1:c.*2675G>T	ENSP00000506863.1:n.*2675G>T
ENST00000684619.1:c.*2909G>T	ENSP00000508088.1:n.*2909G>T
ENST00000684705.1:n.158G>T
ENST00000684743.1:n.4068G>T
ENST00000260665.12:c.3037G>T MANE Select	ENSP00000260665.7:p.Glu1013Ter
ENST00000260665.11:c.3037G>T	ENSP00000260665.7:p.Glu1013Ter
NM_133259.3:c.3037G>T	NP_573566.2:p.Glu1013Ter
XM_006711915.2:c.2959G>T	XP_006711978.1:p.Glu987Ter
XM_006711916.2:c.3037G>T	XP_006711979.1:p.Glu1013Ter
XM_011532473.1:c.3037G>T	XP_011530775.1:p.Glu1013Ter
XM_011532474.1:c.3037G>T	XP_011530776.1:p.Glu1013Ter
XM_006711916.3:c.3037G>T	XP_006711979.1:p.Glu1013Ter
XM_017003117.1:c.2959G>T	XP_016858606.1:p.Glu987Ter
XR_002958896.1:n.3079G>T
NM_133259.4:c.3037G>T MANE Select	NP_573566.2:p.Glu1013Ter