Canonical Allele Identifier: CA346668292

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145256T>A (hg19) ; chr2:g.43918117T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918117T>A , CM000664.2:g.43918117T>A	GRCh38
NC_000002.11:g.44145256T>A , CM000664.1:g.44145256T>A	GRCh37
NC_000002.10:g.43998760T>A	NCBI36
NG_008247.1:g.82889A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.608A>T
ENST00000682295.1:c.303+139A>T	ENSP00000507499.1:n.303+139A>T
ENST00000682303.1:c.*2842A>T	ENSP00000508325.1:n.*2842A>T
ENST00000682308.1:c.3056A>T	ENSP00000507056.1:p.Glu1019Val
ENST00000682480.1:c.3074A>T	ENSP00000508344.1:p.Glu1025Val
ENST00000682546.1:c.3053A>T	ENSP00000508188.1:p.Glu1018Val
ENST00000682585.1:c.3056A>T	ENSP00000506885.1:p.Glu1019Val
ENST00000682595.1:n.3640A>T
ENST00000682607.1:c.1474A>T
ENST00000682779.1:c.3047A>T	ENSP00000507947.1:p.Glu1016Val
ENST00000682845.1:n.2158A>T
ENST00000682885.1:c.3011A>T	ENSP00000508036.1:p.Glu1004Val
ENST00000682933.1:n.3130A>T
ENST00000683072.1:n.3640A>T
ENST00000683080.1:n.675A>T
ENST00000683125.1:c.3164A>T	ENSP00000507939.1:p.Glu1055Val
ENST00000683213.1:c.3059A>T	ENSP00000507751.1:p.Glu1020Val
ENST00000683220.1:c.3086A>T	ENSP00000507151.1:p.Glu1029Val
ENST00000683329.1:n.3859A>T
ENST00000683346.1:c.*2931A>T	ENSP00000507458.1:n.*2931A>T
ENST00000683409.1:n.1663A>T
ENST00000683459.1:n.3643A>T
ENST00000683590.1:c.2897-5559A>T	ENSP00000506820.1:n.2897-5559A>T
ENST00000683623.1:c.2963A>T	ENSP00000507702.1:p.Glu988Val
ENST00000683645.1:n.3607A>T
ENST00000683796.1:c.*2928A>T	ENSP00000508221.1:n.*2928A>T
ENST00000683802.1:n.5981A>T
ENST00000683833.1:c.3047A>T	ENSP00000506852.1:p.Glu1016Val
ENST00000683994.1:c.3056A>T	ENSP00000507181.1:p.Glu1019Val
ENST00000684290.1:c.*592A>T	ENSP00000507243.1:n.*592A>T
ENST00000684306.1:c.*2969A>T	ENSP00000508384.1:n.*2969A>T
ENST00000684341.1:n.3076A>T
ENST00000684383.1:c.*2694A>T	ENSP00000506863.1:n.*2694A>T
ENST00000684619.1:c.*2928A>T	ENSP00000508088.1:n.*2928A>T
ENST00000684705.1:n.177A>T
ENST00000684743.1:n.4087A>T
ENST00000260665.12:c.3056A>T MANE Select	ENSP00000260665.7:p.Glu1019Val
ENST00000260665.11:c.3056A>T	ENSP00000260665.7:p.Glu1019Val
NM_133259.3:c.3056A>T	NP_573566.2:p.Glu1019Val
XM_006711915.2:c.2978A>T	XP_006711978.1:p.Glu993Val
XM_006711916.2:c.3056A>T	XP_006711979.1:p.Glu1019Val
XM_011532473.1:c.3056A>T	XP_011530775.1:p.Glu1019Val
XM_011532474.1:c.3056A>T	XP_011530776.1:p.Glu1019Val
XM_006711916.3:c.3056A>T	XP_006711979.1:p.Glu1019Val
XM_017003117.1:c.2978A>T	XP_016858606.1:p.Glu993Val
XR_002958896.1:n.3098A>T
NM_133259.4:c.3056A>T MANE Select	NP_573566.2:p.Glu1019Val