Canonical Allele Identifier: CA346668664

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145523A>G (hg19) ; chr2:g.43918384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918384A>G , CM000664.2:g.43918384A>G	GRCh38
NC_000002.11:g.44145523A>G , CM000664.1:g.44145523A>G	GRCh37
NC_000002.10:g.43999027A>G	NCBI36
NG_008247.1:g.82622T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.463T>C
ENST00000682295.1:c.175T>C	ENSP00000507499.1:p.Trp59Arg
ENST00000682303.1:c.*2697T>C	ENSP00000508325.1:n.*2697T>C
ENST00000682308.1:c.2911T>C	ENSP00000507056.1:p.Trp971Arg
ENST00000682480.1:c.2911T>C	ENSP00000508344.1:p.Trp971Arg
ENST00000682546.1:c.2908T>C	ENSP00000508188.1:p.Trp970Arg
ENST00000682585.1:c.2911T>C	ENSP00000506885.1:p.Trp971Arg
ENST00000682595.1:n.3495T>C
ENST00000682607.1:c.1329T>C
ENST00000682779.1:c.2902T>C	ENSP00000507947.1:p.Trp968Arg
ENST00000682845.1:n.2013T>C
ENST00000682885.1:c.2866T>C	ENSP00000508036.1:p.Trp956Arg
ENST00000682933.1:n.2985T>C
ENST00000683072.1:n.3495T>C
ENST00000683080.1:n.530T>C
ENST00000683125.1:c.3019T>C	ENSP00000507939.1:p.Trp1007Arg
ENST00000683213.1:c.2914T>C	ENSP00000507751.1:p.Trp972Arg
ENST00000683220.1:c.2941T>C	ENSP00000507151.1:p.Trp981Arg
ENST00000683236.1:c.241T>C	ENSP00000506891.1:n.241T>C
ENST00000683329.1:n.3714T>C
ENST00000683346.1:c.*2786T>C	ENSP00000507458.1:n.*2786T>C
ENST00000683409.1:n.1518T>C
ENST00000683459.1:n.3498T>C
ENST00000683590.1:c.2897-5826T>C	ENSP00000506820.1:n.2897-5826T>C
ENST00000683623.1:c.2818T>C	ENSP00000507702.1:p.Trp940Arg
ENST00000683645.1:n.3462T>C
ENST00000683796.1:c.*2783T>C	ENSP00000508221.1:n.*2783T>C
ENST00000683802.1:n.5836T>C
ENST00000683833.1:c.2902T>C	ENSP00000506852.1:p.Trp968Arg
ENST00000683994.1:c.2911T>C	ENSP00000507181.1:p.Trp971Arg
ENST00000684290.1:c.*447T>C	ENSP00000507243.1:n.*447T>C
ENST00000684306.1:c.*2824T>C	ENSP00000508384.1:n.*2824T>C
ENST00000684341.1:n.2931T>C
ENST00000684383.1:c.*2549T>C	ENSP00000506863.1:n.*2549T>C
ENST00000684619.1:c.*2783T>C	ENSP00000508088.1:n.*2783T>C
ENST00000684705.1:n.32T>C
ENST00000684743.1:n.3942T>C
ENST00000260665.12:c.2911T>C MANE Select	ENSP00000260665.7:p.Trp971Arg
ENST00000260665.11:c.2911T>C	ENSP00000260665.7:p.Trp971Arg
NM_133259.3:c.2911T>C	NP_573566.2:p.Trp971Arg
XM_006711915.2:c.2833T>C	XP_006711978.1:p.Trp945Arg
XM_006711916.2:c.2911T>C	XP_006711979.1:p.Trp971Arg
XM_011532473.1:c.2911T>C	XP_011530775.1:p.Trp971Arg
XM_011532474.1:c.2911T>C	XP_011530776.1:p.Trp971Arg
XM_006711916.3:c.2911T>C	XP_006711979.1:p.Trp971Arg
XM_017003117.1:c.2833T>C	XP_016858606.1:p.Trp945Arg
XR_002958896.1:n.2953T>C
NM_133259.4:c.2911T>C MANE Select	NP_573566.2:p.Trp971Arg