Canonical Allele Identifier: CA346673468

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44171023G>C (hg19) ; chr2:g.43943884G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943884G>C , CM000664.2:g.43943884G>C	GRCh38
NC_000002.11:g.44171023G>C , CM000664.1:g.44171023G>C	GRCh37
NC_000002.10:g.44024527G>C	NCBI36
NG_008247.1:g.57122C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2307C>G	ENSP00000386562.2:p.Asn769Lys
ENST00000447246.2:c.2307C>G	ENSP00000403637.2:p.Asn769Lys
ENST00000681961.1:n.2327C>G
ENST00000682104.1:c.2181C>G	ENSP00000507716.1:p.Asn727Lys
ENST00000682303.1:c.*2093C>G	ENSP00000508325.1:n.*2093C>G
ENST00000682308.1:c.2307C>G	ENSP00000507056.1:p.Asn769Lys
ENST00000682480.1:c.2307C>G	ENSP00000508344.1:p.Asn769Lys
ENST00000682546.1:c.2304C>G	ENSP00000508188.1:p.Asn768Lys
ENST00000682585.1:c.2307C>G	ENSP00000506885.1:p.Asn769Lys
ENST00000682595.1:n.2889C>G
ENST00000682607.1:c.725C>G
ENST00000682779.1:c.2298C>G	ENSP00000507947.1:p.Asn766Lys
ENST00000682845.1:n.1409C>G
ENST00000682885.1:c.2262C>G	ENSP00000508036.1:p.Asn754Lys
ENST00000682933.1:n.2381C>G
ENST00000683072.1:n.2889C>G
ENST00000683125.1:c.2307C>G	ENSP00000507939.1:p.Asn769Lys
ENST00000683213.1:c.2310C>G	ENSP00000507751.1:p.Asn770Lys
ENST00000683220.1:c.2337C>G	ENSP00000507151.1:p.Asn779Lys
ENST00000683329.1:n.3110C>G
ENST00000683346.1:c.*2182C>G	ENSP00000507458.1:n.*2182C>G
ENST00000683459.1:n.2894C>G
ENST00000683590.1:c.2307C>G	ENSP00000506820.1:p.Asn769Lys
ENST00000683623.1:c.2297-83C>G	ENSP00000507702.1:n.2297-83C>G
ENST00000683645.1:n.2858C>G
ENST00000683694.1:n.1058C>G
ENST00000683796.1:c.*2179C>G	ENSP00000508221.1:n.*2179C>G
ENST00000683802.1:n.5232C>G
ENST00000683833.1:c.2298C>G	ENSP00000506852.1:p.Asn766Lys
ENST00000683989.1:c.2307C>G	ENSP00000507510.1:p.Asn769Lys
ENST00000683994.1:c.2307C>G	ENSP00000507181.1:p.Asn769Lys
ENST00000684290.1:c.*1C>G	ENSP00000507243.1:n.*1C>G
ENST00000684306.1:c.*2220C>G	ENSP00000508384.1:n.*2220C>G
ENST00000684341.1:n.2327C>G
ENST00000684383.1:c.*1945C>G	ENSP00000506863.1:n.*1945C>G
ENST00000684397.1:c.11C>G
ENST00000684619.1:c.*2179C>G	ENSP00000508088.1:n.*2179C>G
ENST00000684743.1:n.3338C>G
ENST00000260665.12:c.2307C>G MANE Select	ENSP00000260665.7:p.Asn769Lys
ENST00000260665.11:c.2307C>G	ENSP00000260665.7:p.Asn769Lys
NM_133259.3:c.2307C>G	NP_573566.2:p.Asn769Lys
XM_006711915.2:c.2229C>G	XP_006711978.1:p.Asn743Lys
XM_006711916.2:c.2307C>G	XP_006711979.1:p.Asn769Lys
XM_011532473.1:c.2307C>G	XP_011530775.1:p.Asn769Lys
XM_011532474.1:c.2307C>G	XP_011530776.1:p.Asn769Lys
XM_006711916.3:c.2307C>G	XP_006711979.1:p.Asn769Lys
XM_017003117.1:c.2229C>G	XP_016858606.1:p.Asn743Lys
XR_002958896.1:n.2349C>G
NM_133259.4:c.2307C>G MANE Select	NP_573566.2:p.Asn769Lys