Canonical Allele Identifier: CA346668665

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918385-G-C
• MyVariant Identifiers: chr2:g.44145524G>C (hg19) ; chr2:g.43918385G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918385G>C , CM000664.2:g.43918385G>C	GRCh38
NC_000002.11:g.44145524G>C , CM000664.1:g.44145524G>C	GRCh37
NC_000002.10:g.43999028G>C	NCBI36
NG_008247.1:g.82621C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.462C>G
ENST00000682295.1:c.174C>G	ENSP00000507499.1:p.Asp58Glu
ENST00000682303.1:c.*2696C>G	ENSP00000508325.1:n.*2696C>G
ENST00000682308.1:c.2910C>G	ENSP00000507056.1:p.Asp970Glu
ENST00000682480.1:c.2910C>G	ENSP00000508344.1:p.Asp970Glu
ENST00000682546.1:c.2907C>G	ENSP00000508188.1:p.Asp969Glu
ENST00000682585.1:c.2910C>G	ENSP00000506885.1:p.Asp970Glu
ENST00000682595.1:n.3494C>G
ENST00000682607.1:c.1328C>G
ENST00000682779.1:c.2901C>G	ENSP00000507947.1:p.Asp967Glu
ENST00000682845.1:n.2012C>G
ENST00000682885.1:c.2865C>G	ENSP00000508036.1:p.Asp955Glu
ENST00000682933.1:n.2984C>G
ENST00000683072.1:n.3494C>G
ENST00000683080.1:n.529C>G
ENST00000683125.1:c.3018C>G	ENSP00000507939.1:p.Asp1006Glu
ENST00000683213.1:c.2913C>G	ENSP00000507751.1:p.Asp971Glu
ENST00000683220.1:c.2940C>G	ENSP00000507151.1:p.Asp980Glu
ENST00000683236.1:c.240C>G	ENSP00000506891.1:n.240C>G
ENST00000683329.1:n.3713C>G
ENST00000683346.1:c.*2785C>G	ENSP00000507458.1:n.*2785C>G
ENST00000683409.1:n.1517C>G
ENST00000683459.1:n.3497C>G
ENST00000683590.1:c.2897-5827C>G	ENSP00000506820.1:n.2897-5827C>G
ENST00000683623.1:c.2817C>G	ENSP00000507702.1:p.Asp939Glu
ENST00000683645.1:n.3461C>G
ENST00000683796.1:c.*2782C>G	ENSP00000508221.1:n.*2782C>G
ENST00000683802.1:n.5835C>G
ENST00000683833.1:c.2901C>G	ENSP00000506852.1:p.Asp967Glu
ENST00000683994.1:c.2910C>G	ENSP00000507181.1:p.Asp970Glu
ENST00000684290.1:c.*446C>G	ENSP00000507243.1:n.*446C>G
ENST00000684306.1:c.*2823C>G	ENSP00000508384.1:n.*2823C>G
ENST00000684341.1:n.2930C>G
ENST00000684383.1:c.*2548C>G	ENSP00000506863.1:n.*2548C>G
ENST00000684619.1:c.*2782C>G	ENSP00000508088.1:n.*2782C>G
ENST00000684705.1:n.31C>G
ENST00000684743.1:n.3941C>G
ENST00000260665.12:c.2910C>G MANE Select	ENSP00000260665.7:p.Asp970Glu
ENST00000260665.11:c.2910C>G	ENSP00000260665.7:p.Asp970Glu
NM_133259.3:c.2910C>G	NP_573566.2:p.Asp970Glu
XM_006711915.2:c.2832C>G	XP_006711978.1:p.Asp944Glu
XM_006711916.2:c.2910C>G	XP_006711979.1:p.Asp970Glu
XM_011532473.1:c.2910C>G	XP_011530775.1:p.Asp970Glu
XM_011532474.1:c.2910C>G	XP_011530776.1:p.Asp970Glu
XM_006711916.3:c.2910C>G	XP_006711979.1:p.Asp970Glu
XM_017003117.1:c.2832C>G	XP_016858606.1:p.Asp944Glu
XR_002958896.1:n.2952C>G
NM_133259.4:c.2910C>G MANE Select	NP_573566.2:p.Asp970Glu