Canonical Allele Identifier: CA346668289

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145255T>G (hg19) ; chr2:g.43918116T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918116T>G , CM000664.2:g.43918116T>G	GRCh38
NC_000002.11:g.44145255T>G , CM000664.1:g.44145255T>G	GRCh37
NC_000002.10:g.43998759T>G	NCBI36
NG_008247.1:g.82890A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.609A>C
ENST00000682295.1:c.303+140A>C	ENSP00000507499.1:n.303+140A>C
ENST00000682303.1:c.*2843A>C	ENSP00000508325.1:n.*2843A>C
ENST00000682308.1:c.3057A>C	ENSP00000507056.1:p.Glu1019Asp
ENST00000682480.1:c.3075A>C	ENSP00000508344.1:p.Glu1025Asp
ENST00000682546.1:c.3054A>C	ENSP00000508188.1:p.Glu1018Asp
ENST00000682585.1:c.3057A>C	ENSP00000506885.1:p.Glu1019Asp
ENST00000682595.1:n.3641A>C
ENST00000682607.1:c.1475A>C
ENST00000682779.1:c.3048A>C	ENSP00000507947.1:p.Glu1016Asp
ENST00000682845.1:n.2159A>C
ENST00000682885.1:c.3012A>C	ENSP00000508036.1:p.Glu1004Asp
ENST00000682933.1:n.3131A>C
ENST00000683072.1:n.3641A>C
ENST00000683080.1:n.676A>C
ENST00000683125.1:c.3165A>C	ENSP00000507939.1:p.Glu1055Asp
ENST00000683213.1:c.3060A>C	ENSP00000507751.1:p.Glu1020Asp
ENST00000683220.1:c.3087A>C	ENSP00000507151.1:p.Glu1029Asp
ENST00000683329.1:n.3860A>C
ENST00000683346.1:c.*2932A>C	ENSP00000507458.1:n.*2932A>C
ENST00000683409.1:n.1664A>C
ENST00000683459.1:n.3644A>C
ENST00000683590.1:c.2897-5558A>C	ENSP00000506820.1:n.2897-5558A>C
ENST00000683623.1:c.2964A>C	ENSP00000507702.1:p.Glu988Asp
ENST00000683645.1:n.3608A>C
ENST00000683796.1:c.*2929A>C	ENSP00000508221.1:n.*2929A>C
ENST00000683802.1:n.5982A>C
ENST00000683833.1:c.3048A>C	ENSP00000506852.1:p.Glu1016Asp
ENST00000683994.1:c.3057A>C	ENSP00000507181.1:p.Glu1019Asp
ENST00000684290.1:c.*593A>C	ENSP00000507243.1:n.*593A>C
ENST00000684306.1:c.*2970A>C	ENSP00000508384.1:n.*2970A>C
ENST00000684341.1:n.3077A>C
ENST00000684383.1:c.*2695A>C	ENSP00000506863.1:n.*2695A>C
ENST00000684619.1:c.*2929A>C	ENSP00000508088.1:n.*2929A>C
ENST00000684705.1:n.178A>C
ENST00000684743.1:n.4088A>C
ENST00000260665.12:c.3057A>C MANE Select	ENSP00000260665.7:p.Glu1019Asp
ENST00000260665.11:c.3057A>C	ENSP00000260665.7:p.Glu1019Asp
NM_133259.3:c.3057A>C	NP_573566.2:p.Glu1019Asp
XM_006711915.2:c.2979A>C	XP_006711978.1:p.Glu993Asp
XM_006711916.2:c.3057A>C	XP_006711979.1:p.Glu1019Asp
XM_011532473.1:c.3057A>C	XP_011530775.1:p.Glu1019Asp
XM_011532474.1:c.3057A>C	XP_011530776.1:p.Glu1019Asp
XM_006711916.3:c.3057A>C	XP_006711979.1:p.Glu1019Asp
XM_017003117.1:c.2979A>C	XP_016858606.1:p.Glu993Asp
XR_002958896.1:n.3099A>C
NM_133259.4:c.3057A>C MANE Select	NP_573566.2:p.Glu1019Asp