Canonical Allele Identifier: CA425908544

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2846779
• ClinVar RCV Id: RCV003690474
• MyVariant Identifiers: chr2:g.44145258A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918119A>G , CM000664.2:g.43918119A>G	GRCh38
NC_000002.11:g.44145258A>G , CM000664.1:g.44145258A>G	GRCh37
NC_000002.10:g.43998762A>G	NCBI36
NG_008247.1:g.82887T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.606T>C
ENST00000682295.1:c.303+137T>C	ENSP00000507499.1:n.303+137T>C
ENST00000682303.1:c.*2840T>C	ENSP00000508325.1:n.*2840T>C
ENST00000682308.1:c.3054T>C	ENSP00000507056.1:p.Asp1018=
ENST00000682480.1:c.3072T>C	ENSP00000508344.1:p.Asp1024=
ENST00000682546.1:c.3051T>C	ENSP00000508188.1:p.Asp1017=
ENST00000682585.1:c.3054T>C	ENSP00000506885.1:p.Asp1018=
ENST00000682595.1:n.3638T>C
ENST00000682607.1:c.1472T>C
ENST00000682779.1:c.3045T>C	ENSP00000507947.1:p.Asp1015=
ENST00000682845.1:n.2156T>C
ENST00000682885.1:c.3009T>C	ENSP00000508036.1:p.Asp1003=
ENST00000682933.1:n.3128T>C
ENST00000683072.1:n.3638T>C
ENST00000683080.1:n.673T>C
ENST00000683125.1:c.3162T>C	ENSP00000507939.1:p.Asp1054=
ENST00000683213.1:c.3057T>C	ENSP00000507751.1:p.Asp1019=
ENST00000683220.1:c.3084T>C	ENSP00000507151.1:p.Asp1028=
ENST00000683329.1:n.3857T>C
ENST00000683346.1:c.*2929T>C	ENSP00000507458.1:n.*2929T>C
ENST00000683409.1:n.1661T>C
ENST00000683459.1:n.3641T>C
ENST00000683590.1:c.2897-5561T>C	ENSP00000506820.1:n.2897-5561T>C
ENST00000683623.1:c.2961T>C	ENSP00000507702.1:p.Asp987=
ENST00000683645.1:n.3605T>C
ENST00000683796.1:c.*2926T>C	ENSP00000508221.1:n.*2926T>C
ENST00000683802.1:n.5979T>C
ENST00000683833.1:c.3045T>C	ENSP00000506852.1:p.Asp1015=
ENST00000683994.1:c.3054T>C	ENSP00000507181.1:p.Asp1018=
ENST00000684290.1:c.*590T>C	ENSP00000507243.1:n.*590T>C
ENST00000684306.1:c.*2967T>C	ENSP00000508384.1:n.*2967T>C
ENST00000684341.1:n.3074T>C
ENST00000684383.1:c.*2692T>C	ENSP00000506863.1:n.*2692T>C
ENST00000684619.1:c.*2926T>C	ENSP00000508088.1:n.*2926T>C
ENST00000684705.1:n.175T>C
ENST00000684743.1:n.4085T>C
ENST00000260665.12:c.3054T>C MANE Select	ENSP00000260665.7:p.Asp1018=
ENST00000260665.11:c.3054T>C	ENSP00000260665.7:p.Asp1018=
NM_133259.3:c.3054T>C	NP_573566.2:p.Asp1018=
XM_006711915.2:c.2976T>C	XP_006711978.1:p.Asp992=
XM_006711916.2:c.3054T>C	XP_006711979.1:p.Asp1018=
XM_011532473.1:c.3054T>C	XP_011530775.1:p.Asp1018=
XM_011532474.1:c.3054T>C	XP_011530776.1:p.Asp1018=
XM_006711916.3:c.3054T>C	XP_006711979.1:p.Asp1018=
XM_017003117.1:c.2976T>C	XP_016858606.1:p.Asp992=
XR_002958896.1:n.3096T>C
NM_133259.4:c.3054T>C MANE Select	NP_573566.2:p.Asp1018=