Canonical Allele Identifier: CA346668334

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145263C>T (hg19) ; chr2:g.43918124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918124C>T , CM000664.2:g.43918124C>T	GRCh38
NC_000002.11:g.44145263C>T , CM000664.1:g.44145263C>T	GRCh37
NC_000002.10:g.43998767C>T	NCBI36
NG_008247.1:g.82882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.601G>A
ENST00000682295.1:c.303+132G>A	ENSP00000507499.1:n.303+132G>A
ENST00000682303.1:c.*2835G>A	ENSP00000508325.1:n.*2835G>A
ENST00000682308.1:c.3049G>A	ENSP00000507056.1:p.Glu1017Lys
ENST00000682480.1:c.3067G>A	ENSP00000508344.1:p.Glu1023Lys
ENST00000682546.1:c.3046G>A	ENSP00000508188.1:p.Glu1016Lys
ENST00000682585.1:c.3049G>A	ENSP00000506885.1:p.Glu1017Lys
ENST00000682595.1:n.3633G>A
ENST00000682607.1:c.1467G>A
ENST00000682779.1:c.3040G>A	ENSP00000507947.1:p.Glu1014Lys
ENST00000682845.1:n.2151G>A
ENST00000682885.1:c.3004G>A	ENSP00000508036.1:p.Glu1002Lys
ENST00000682933.1:n.3123G>A
ENST00000683072.1:n.3633G>A
ENST00000683080.1:n.668G>A
ENST00000683125.1:c.3157G>A	ENSP00000507939.1:p.Glu1053Lys
ENST00000683213.1:c.3052G>A	ENSP00000507751.1:p.Glu1018Lys
ENST00000683220.1:c.3079G>A	ENSP00000507151.1:p.Glu1027Lys
ENST00000683329.1:n.3852G>A
ENST00000683346.1:c.*2924G>A	ENSP00000507458.1:n.*2924G>A
ENST00000683409.1:n.1656G>A
ENST00000683459.1:n.3636G>A
ENST00000683590.1:c.2897-5566G>A	ENSP00000506820.1:n.2897-5566G>A
ENST00000683623.1:c.2956G>A	ENSP00000507702.1:p.Glu986Lys
ENST00000683645.1:n.3600G>A
ENST00000683796.1:c.*2921G>A	ENSP00000508221.1:n.*2921G>A
ENST00000683802.1:n.5974G>A
ENST00000683833.1:c.3040G>A	ENSP00000506852.1:p.Glu1014Lys
ENST00000683994.1:c.3049G>A	ENSP00000507181.1:p.Glu1017Lys
ENST00000684290.1:c.*585G>A	ENSP00000507243.1:n.*585G>A
ENST00000684306.1:c.*2962G>A	ENSP00000508384.1:n.*2962G>A
ENST00000684341.1:n.3069G>A
ENST00000684383.1:c.*2687G>A	ENSP00000506863.1:n.*2687G>A
ENST00000684619.1:c.*2921G>A	ENSP00000508088.1:n.*2921G>A
ENST00000684705.1:n.170G>A
ENST00000684743.1:n.4080G>A
ENST00000260665.12:c.3049G>A MANE Select	ENSP00000260665.7:p.Glu1017Lys
ENST00000260665.11:c.3049G>A	ENSP00000260665.7:p.Glu1017Lys
NM_133259.3:c.3049G>A	NP_573566.2:p.Glu1017Lys
XM_006711915.2:c.2971G>A	XP_006711978.1:p.Glu991Lys
XM_006711916.2:c.3049G>A	XP_006711979.1:p.Glu1017Lys
XM_011532473.1:c.3049G>A	XP_011530775.1:p.Glu1017Lys
XM_011532474.1:c.3049G>A	XP_011530776.1:p.Glu1017Lys
XM_006711916.3:c.3049G>A	XP_006711979.1:p.Glu1017Lys
XM_017003117.1:c.2971G>A	XP_016858606.1:p.Glu991Lys
XR_002958896.1:n.3091G>A
NM_133259.4:c.3049G>A MANE Select	NP_573566.2:p.Glu1017Lys