Canonical Allele Identifier: CA346668462

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145430C>A (hg19) ; chr2:g.43918291C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918291C>A , CM000664.2:g.43918291C>A	GRCh38
NC_000002.11:g.44145430C>A , CM000664.1:g.44145430C>A	GRCh37
NC_000002.10:g.43998934C>A	NCBI36
NG_008247.1:g.82715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.556G>T
ENST00000682295.1:c.268G>T	ENSP00000507499.1:p.Glu90Ter
ENST00000682303.1:c.*2790G>T	ENSP00000508325.1:n.*2790G>T
ENST00000682308.1:c.3004G>T	ENSP00000507056.1:p.Glu1002Ter
ENST00000682480.1:c.3004G>T	ENSP00000508344.1:p.Glu1002Ter
ENST00000682546.1:c.3001G>T	ENSP00000508188.1:p.Glu1001Ter
ENST00000682585.1:c.3004G>T	ENSP00000506885.1:p.Glu1002Ter
ENST00000682595.1:n.3588G>T
ENST00000682607.1:c.1422G>T
ENST00000682779.1:c.2995G>T	ENSP00000507947.1:p.Glu999Ter
ENST00000682845.1:n.2106G>T
ENST00000682885.1:c.2959G>T	ENSP00000508036.1:p.Glu987Ter
ENST00000682933.1:n.3078G>T
ENST00000683072.1:n.3588G>T
ENST00000683080.1:n.623G>T
ENST00000683125.1:c.3112G>T	ENSP00000507939.1:p.Glu1038Ter
ENST00000683213.1:c.3007G>T	ENSP00000507751.1:p.Glu1003Ter
ENST00000683220.1:c.3034G>T	ENSP00000507151.1:p.Glu1012Ter
ENST00000683236.1:c.334G>T	ENSP00000506891.1:n.334G>T
ENST00000683329.1:n.3807G>T
ENST00000683346.1:c.*2879G>T	ENSP00000507458.1:n.*2879G>T
ENST00000683409.1:n.1611G>T
ENST00000683459.1:n.3591G>T
ENST00000683590.1:c.2897-5733G>T	ENSP00000506820.1:n.2897-5733G>T
ENST00000683623.1:c.2911G>T	ENSP00000507702.1:p.Glu971Ter
ENST00000683645.1:n.3555G>T
ENST00000683796.1:c.*2876G>T	ENSP00000508221.1:n.*2876G>T
ENST00000683802.1:n.5929G>T
ENST00000683833.1:c.2995G>T	ENSP00000506852.1:p.Glu999Ter
ENST00000683994.1:c.3004G>T	ENSP00000507181.1:p.Glu1002Ter
ENST00000684290.1:c.*540G>T	ENSP00000507243.1:n.*540G>T
ENST00000684306.1:c.*2917G>T	ENSP00000508384.1:n.*2917G>T
ENST00000684341.1:n.3024G>T
ENST00000684383.1:c.*2642G>T	ENSP00000506863.1:n.*2642G>T
ENST00000684619.1:c.*2876G>T	ENSP00000508088.1:n.*2876G>T
ENST00000684705.1:n.125G>T
ENST00000684743.1:n.4035G>T
ENST00000260665.12:c.3004G>T MANE Select	ENSP00000260665.7:p.Glu1002Ter
ENST00000260665.11:c.3004G>T	ENSP00000260665.7:p.Glu1002Ter
NM_133259.3:c.3004G>T	NP_573566.2:p.Glu1002Ter
XM_006711915.2:c.2926G>T	XP_006711978.1:p.Glu976Ter
XM_006711916.2:c.3004G>T	XP_006711979.1:p.Glu1002Ter
XM_011532473.1:c.3004G>T	XP_011530775.1:p.Glu1002Ter
XM_011532474.1:c.3004G>T	XP_011530776.1:p.Glu1002Ter
XM_006711916.3:c.3004G>T	XP_006711979.1:p.Glu1002Ter
XM_017003117.1:c.2926G>T	XP_016858606.1:p.Glu976Ter
XR_002958896.1:n.3046G>T
NM_133259.4:c.3004G>T MANE Select	NP_573566.2:p.Glu1002Ter