Canonical Allele Identifier: CA346668044

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145203T>G (hg19) ; chr2:g.43918064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918064T>G , CM000664.2:g.43918064T>G	GRCh38
NC_000002.11:g.44145203T>G , CM000664.1:g.44145203T>G	GRCh37
NC_000002.10:g.43998707T>G	NCBI36
NG_008247.1:g.82942A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.661A>C
ENST00000682295.1:c.303+192A>C	ENSP00000507499.1:n.303+192A>C
ENST00000682303.1:c.*2895A>C	ENSP00000508325.1:n.*2895A>C
ENST00000682308.1:c.3109A>C	ENSP00000507056.1:p.Lys1037Gln
ENST00000682480.1:c.3127A>C	ENSP00000508344.1:p.Lys1043Gln
ENST00000682546.1:c.3106A>C	ENSP00000508188.1:p.Lys1036Gln
ENST00000682585.1:c.3109A>C	ENSP00000506885.1:p.Lys1037Gln
ENST00000682595.1:n.3693A>C
ENST00000682607.1:c.1527A>C
ENST00000682779.1:c.3100A>C	ENSP00000507947.1:p.Lys1034Gln
ENST00000682845.1:n.2211A>C
ENST00000682885.1:c.3064A>C	ENSP00000508036.1:p.Lys1022Gln
ENST00000682933.1:n.3183A>C
ENST00000683072.1:n.3693A>C
ENST00000683080.1:n.728A>C
ENST00000683125.1:c.3217A>C	ENSP00000507939.1:p.Lys1073Gln
ENST00000683213.1:c.3112A>C	ENSP00000507751.1:p.Lys1038Gln
ENST00000683220.1:c.3139A>C	ENSP00000507151.1:p.Lys1047Gln
ENST00000683329.1:n.3912A>C
ENST00000683346.1:c.*2984A>C	ENSP00000507458.1:n.*2984A>C
ENST00000683409.1:n.1716A>C
ENST00000683459.1:n.3696A>C
ENST00000683590.1:c.2897-5506A>C	ENSP00000506820.1:n.2897-5506A>C
ENST00000683623.1:c.3016A>C	ENSP00000507702.1:p.Lys1006Gln
ENST00000683645.1:n.3660A>C
ENST00000683796.1:c.*2981A>C	ENSP00000508221.1:n.*2981A>C
ENST00000683802.1:n.6034A>C
ENST00000683833.1:c.3100A>C	ENSP00000506852.1:p.Lys1034Gln
ENST00000683994.1:c.3109A>C	ENSP00000507181.1:p.Lys1037Gln
ENST00000684290.1:c.*645A>C	ENSP00000507243.1:n.*645A>C
ENST00000684306.1:c.*3022A>C	ENSP00000508384.1:n.*3022A>C
ENST00000684341.1:n.3129A>C
ENST00000684383.1:c.*2747A>C	ENSP00000506863.1:n.*2747A>C
ENST00000684619.1:c.*2981A>C	ENSP00000508088.1:n.*2981A>C
ENST00000684705.1:n.230A>C
ENST00000684743.1:n.4140A>C
ENST00000260665.12:c.3109A>C MANE Select	ENSP00000260665.7:p.Lys1037Gln
ENST00000260665.11:c.3109A>C	ENSP00000260665.7:p.Lys1037Gln
NM_133259.3:c.3109A>C	NP_573566.2:p.Lys1037Gln
XM_006711915.2:c.3031A>C	XP_006711978.1:p.Lys1011Gln
XM_006711916.2:c.3109A>C	XP_006711979.1:p.Lys1037Gln
XM_011532473.1:c.3109A>C	XP_011530775.1:p.Lys1037Gln
XM_011532474.1:c.3109A>C	XP_011530776.1:p.Lys1037Gln
XM_006711916.3:c.3109A>C	XP_006711979.1:p.Lys1037Gln
XM_017003117.1:c.3031A>C	XP_016858606.1:p.Lys1011Gln
XR_002958896.1:n.3151A>C
NM_133259.4:c.3109A>C MANE Select	NP_573566.2:p.Lys1037Gln