Canonical Allele Identifier: CA346668510

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145452T>A (hg19) ; chr2:g.43918313T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918313T>A , CM000664.2:g.43918313T>A	GRCh38
NC_000002.11:g.44145452T>A , CM000664.1:g.44145452T>A	GRCh37
NC_000002.10:g.43998956T>A	NCBI36
NG_008247.1:g.82693A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.534A>T
ENST00000682295.1:c.246A>T	ENSP00000507499.1:p.Arg82Ser
ENST00000682303.1:c.*2768A>T	ENSP00000508325.1:n.*2768A>T
ENST00000682308.1:c.2982A>T	ENSP00000507056.1:p.Arg994Ser
ENST00000682480.1:c.2982A>T	ENSP00000508344.1:p.Arg994Ser
ENST00000682546.1:c.2979A>T	ENSP00000508188.1:p.Arg993Ser
ENST00000682585.1:c.2982A>T	ENSP00000506885.1:p.Arg994Ser
ENST00000682595.1:n.3566A>T
ENST00000682607.1:c.1400A>T
ENST00000682779.1:c.2973A>T	ENSP00000507947.1:p.Arg991Ser
ENST00000682845.1:n.2084A>T
ENST00000682885.1:c.2937A>T	ENSP00000508036.1:p.Arg979Ser
ENST00000682933.1:n.3056A>T
ENST00000683072.1:n.3566A>T
ENST00000683080.1:n.601A>T
ENST00000683125.1:c.3090A>T	ENSP00000507939.1:p.Arg1030Ser
ENST00000683213.1:c.2985A>T	ENSP00000507751.1:p.Arg995Ser
ENST00000683220.1:c.3012A>T	ENSP00000507151.1:p.Arg1004Ser
ENST00000683236.1:c.312A>T	ENSP00000506891.1:n.312A>T
ENST00000683329.1:n.3785A>T
ENST00000683346.1:c.*2857A>T	ENSP00000507458.1:n.*2857A>T
ENST00000683409.1:n.1589A>T
ENST00000683459.1:n.3569A>T
ENST00000683590.1:c.2897-5755A>T	ENSP00000506820.1:n.2897-5755A>T
ENST00000683623.1:c.2889A>T	ENSP00000507702.1:p.Arg963Ser
ENST00000683645.1:n.3533A>T
ENST00000683796.1:c.*2854A>T	ENSP00000508221.1:n.*2854A>T
ENST00000683802.1:n.5907A>T
ENST00000683833.1:c.2973A>T	ENSP00000506852.1:p.Arg991Ser
ENST00000683994.1:c.2982A>T	ENSP00000507181.1:p.Arg994Ser
ENST00000684290.1:c.*518A>T	ENSP00000507243.1:n.*518A>T
ENST00000684306.1:c.*2895A>T	ENSP00000508384.1:n.*2895A>T
ENST00000684341.1:n.3002A>T
ENST00000684383.1:c.*2620A>T	ENSP00000506863.1:n.*2620A>T
ENST00000684619.1:c.*2854A>T	ENSP00000508088.1:n.*2854A>T
ENST00000684705.1:n.103A>T
ENST00000684743.1:n.4013A>T
ENST00000260665.12:c.2982A>T MANE Select	ENSP00000260665.7:p.Arg994Ser
ENST00000260665.11:c.2982A>T	ENSP00000260665.7:p.Arg994Ser
NM_133259.3:c.2982A>T	NP_573566.2:p.Arg994Ser
XM_006711915.2:c.2904A>T	XP_006711978.1:p.Arg968Ser
XM_006711916.2:c.2982A>T	XP_006711979.1:p.Arg994Ser
XM_011532473.1:c.2982A>T	XP_011530775.1:p.Arg994Ser
XM_011532474.1:c.2982A>T	XP_011530776.1:p.Arg994Ser
XM_006711916.3:c.2982A>T	XP_006711979.1:p.Arg994Ser
XM_017003117.1:c.2904A>T	XP_016858606.1:p.Arg968Ser
XR_002958896.1:n.3024A>T
NM_133259.4:c.2982A>T MANE Select	NP_573566.2:p.Arg994Ser