Canonical Allele Identifier: CA346668678

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145530G>C (hg19) ; chr2:g.43918391G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918391G>C , CM000664.2:g.43918391G>C	GRCh38
NC_000002.11:g.44145530G>C , CM000664.1:g.44145530G>C	GRCh37
NC_000002.10:g.43999034G>C	NCBI36
NG_008247.1:g.82615C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.456C>G
ENST00000682295.1:c.168C>G	ENSP00000507499.1:p.Asn56Lys
ENST00000682303.1:c.*2690C>G	ENSP00000508325.1:n.*2690C>G
ENST00000682308.1:c.2904C>G	ENSP00000507056.1:p.Asn968Lys
ENST00000682480.1:c.2904C>G	ENSP00000508344.1:p.Asn968Lys
ENST00000682546.1:c.2901C>G	ENSP00000508188.1:p.Asn967Lys
ENST00000682585.1:c.2904C>G	ENSP00000506885.1:p.Asn968Lys
ENST00000682595.1:n.3488C>G
ENST00000682607.1:c.1322C>G
ENST00000682779.1:c.2895C>G	ENSP00000507947.1:p.Asn965Lys
ENST00000682845.1:n.2006C>G
ENST00000682885.1:c.2859C>G	ENSP00000508036.1:p.Asn953Lys
ENST00000682933.1:n.2978C>G
ENST00000683072.1:n.3488C>G
ENST00000683080.1:n.523C>G
ENST00000683125.1:c.3012C>G	ENSP00000507939.1:p.Asn1004Lys
ENST00000683213.1:c.2907C>G	ENSP00000507751.1:p.Asn969Lys
ENST00000683220.1:c.2934C>G	ENSP00000507151.1:p.Asn978Lys
ENST00000683236.1:c.234C>G	ENSP00000506891.1:n.234C>G
ENST00000683329.1:n.3707C>G
ENST00000683346.1:c.*2779C>G	ENSP00000507458.1:n.*2779C>G
ENST00000683409.1:n.1511C>G
ENST00000683459.1:n.3491C>G
ENST00000683590.1:c.2897-5833C>G	ENSP00000506820.1:n.2897-5833C>G
ENST00000683623.1:c.2811C>G	ENSP00000507702.1:p.Asn937Lys
ENST00000683645.1:n.3455C>G
ENST00000683796.1:c.*2776C>G	ENSP00000508221.1:n.*2776C>G
ENST00000683802.1:n.5829C>G
ENST00000683833.1:c.2895C>G	ENSP00000506852.1:p.Asn965Lys
ENST00000683994.1:c.2904C>G	ENSP00000507181.1:p.Asn968Lys
ENST00000684290.1:c.*440C>G	ENSP00000507243.1:n.*440C>G
ENST00000684306.1:c.*2817C>G	ENSP00000508384.1:n.*2817C>G
ENST00000684341.1:n.2924C>G
ENST00000684383.1:c.*2542C>G	ENSP00000506863.1:n.*2542C>G
ENST00000684619.1:c.*2776C>G	ENSP00000508088.1:n.*2776C>G
ENST00000684705.1:n.25C>G
ENST00000684743.1:n.3935C>G
ENST00000260665.12:c.2904C>G MANE Select	ENSP00000260665.7:p.Asn968Lys
ENST00000260665.11:c.2904C>G	ENSP00000260665.7:p.Asn968Lys
NM_133259.3:c.2904C>G	NP_573566.2:p.Asn968Lys
XM_006711915.2:c.2826C>G	XP_006711978.1:p.Asn942Lys
XM_006711916.2:c.2904C>G	XP_006711979.1:p.Asn968Lys
XM_011532473.1:c.2904C>G	XP_011530775.1:p.Asn968Lys
XM_011532474.1:c.2904C>G	XP_011530776.1:p.Asn968Lys
XM_006711916.3:c.2904C>G	XP_006711979.1:p.Asn968Lys
XM_017003117.1:c.2826C>G	XP_016858606.1:p.Asn942Lys
XR_002958896.1:n.2946C>G
NM_133259.4:c.2904C>G MANE Select	NP_573566.2:p.Asn968Lys