Canonical Allele Identifier: CA346673481

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44171025T>G (hg19) ; chr2:g.43943886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943886T>G , CM000664.2:g.43943886T>G	GRCh38
NC_000002.11:g.44171025T>G , CM000664.1:g.44171025T>G	GRCh37
NC_000002.10:g.44024529T>G	NCBI36
NG_008247.1:g.57120A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2305A>C	ENSP00000386562.2:p.Asn769His
ENST00000447246.2:c.2305A>C	ENSP00000403637.2:p.Asn769His
ENST00000681961.1:n.2325A>C
ENST00000682104.1:c.2179A>C	ENSP00000507716.1:p.Asn727His
ENST00000682303.1:c.*2091A>C	ENSP00000508325.1:n.*2091A>C
ENST00000682308.1:c.2305A>C	ENSP00000507056.1:p.Asn769His
ENST00000682480.1:c.2305A>C	ENSP00000508344.1:p.Asn769His
ENST00000682546.1:c.2302A>C	ENSP00000508188.1:p.Asn768His
ENST00000682585.1:c.2305A>C	ENSP00000506885.1:p.Asn769His
ENST00000682595.1:n.2887A>C
ENST00000682607.1:c.723A>C
ENST00000682779.1:c.2296A>C	ENSP00000507947.1:p.Asn766His
ENST00000682845.1:n.1407A>C
ENST00000682885.1:c.2260A>C	ENSP00000508036.1:p.Asn754His
ENST00000682933.1:n.2379A>C
ENST00000683072.1:n.2887A>C
ENST00000683125.1:c.2305A>C	ENSP00000507939.1:p.Asn769His
ENST00000683213.1:c.2308A>C	ENSP00000507751.1:p.Asn770His
ENST00000683220.1:c.2335A>C	ENSP00000507151.1:p.Asn779His
ENST00000683329.1:n.3108A>C
ENST00000683346.1:c.*2180A>C	ENSP00000507458.1:n.*2180A>C
ENST00000683459.1:n.2892A>C
ENST00000683590.1:c.2305A>C	ENSP00000506820.1:p.Asn769His
ENST00000683623.1:c.2297-85A>C	ENSP00000507702.1:n.2297-85A>C
ENST00000683645.1:n.2856A>C
ENST00000683694.1:n.1056A>C
ENST00000683796.1:c.*2177A>C	ENSP00000508221.1:n.*2177A>C
ENST00000683802.1:n.5230A>C
ENST00000683833.1:c.2296A>C	ENSP00000506852.1:p.Asn766His
ENST00000683989.1:c.2305A>C	ENSP00000507510.1:p.Asn769His
ENST00000683994.1:c.2305A>C	ENSP00000507181.1:p.Asn769His
ENST00000684290.1:c.2219A>C	ENSP00000507243.1:p.Ter740Ser
ENST00000684306.1:c.*2218A>C	ENSP00000508384.1:n.*2218A>C
ENST00000684341.1:n.2325A>C
ENST00000684383.1:c.*1943A>C	ENSP00000506863.1:n.*1943A>C
ENST00000684397.1:c.9A>C
ENST00000684619.1:c.*2177A>C	ENSP00000508088.1:n.*2177A>C
ENST00000684743.1:n.3336A>C
ENST00000260665.12:c.2305A>C MANE Select	ENSP00000260665.7:p.Asn769His
ENST00000260665.11:c.2305A>C	ENSP00000260665.7:p.Asn769His
NM_133259.3:c.2305A>C	NP_573566.2:p.Asn769His
XM_006711915.2:c.2227A>C	XP_006711978.1:p.Asn743His
XM_006711916.2:c.2305A>C	XP_006711979.1:p.Asn769His
XM_011532473.1:c.2305A>C	XP_011530775.1:p.Asn769His
XM_011532474.1:c.2305A>C	XP_011530776.1:p.Asn769His
XM_006711916.3:c.2305A>C	XP_006711979.1:p.Asn769His
XM_017003117.1:c.2227A>C	XP_016858606.1:p.Asn743His
XR_002958896.1:n.2347A>C
NM_133259.4:c.2305A>C MANE Select	NP_573566.2:p.Asn769His