Canonical Allele Identifier: CA346668168
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918090G>C , CM000664.2:g.43918090G>C GRCh38
NC_000002.11:g.44145229G>C , CM000664.1:g.44145229G>C GRCh37
NC_000002.10:g.43998733G>C NCBI36
NG_008247.1:g.82916C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.635C>G
ENST00000682295.1:c.303+166C>G ENSP00000507499.1:n.303+166C>G
ENST00000682303.1:c.*2869C>G ENSP00000508325.1:n.*2869C>G
ENST00000682308.1:c.3083C>G ENSP00000507056.1:p.Ala1028Gly
ENST00000682480.1:c.3101C>G ENSP00000508344.1:p.Ala1034Gly
ENST00000682546.1:c.3080C>G ENSP00000508188.1:p.Ala1027Gly
ENST00000682585.1:c.3083C>G ENSP00000506885.1:p.Ala1028Gly
ENST00000682595.1:n.3667C>G
ENST00000682607.1:c.1501C>G
ENST00000682779.1:c.3074C>G ENSP00000507947.1:p.Ala1025Gly
ENST00000682845.1:n.2185C>G
ENST00000682885.1:c.3038C>G ENSP00000508036.1:p.Ala1013Gly
ENST00000682933.1:n.3157C>G
ENST00000683072.1:n.3667C>G
ENST00000683080.1:n.702C>G
ENST00000683125.1:c.3191C>G ENSP00000507939.1:p.Ala1064Gly
ENST00000683213.1:c.3086C>G ENSP00000507751.1:p.Ala1029Gly
ENST00000683220.1:c.3113C>G ENSP00000507151.1:p.Ala1038Gly
ENST00000683329.1:n.3886C>G
ENST00000683346.1:c.*2958C>G ENSP00000507458.1:n.*2958C>G
ENST00000683409.1:n.1690C>G
ENST00000683459.1:n.3670C>G
ENST00000683590.1:c.2897-5532C>G ENSP00000506820.1:n.2897-5532C>G
ENST00000683623.1:c.2990C>G ENSP00000507702.1:p.Ala997Gly
ENST00000683645.1:n.3634C>G
ENST00000683796.1:c.*2955C>G ENSP00000508221.1:n.*2955C>G
ENST00000683802.1:n.6008C>G
ENST00000683833.1:c.3074C>G ENSP00000506852.1:p.Ala1025Gly
ENST00000683994.1:c.3083C>G ENSP00000507181.1:p.Ala1028Gly
ENST00000684290.1:c.*619C>G ENSP00000507243.1:n.*619C>G
ENST00000684306.1:c.*2996C>G ENSP00000508384.1:n.*2996C>G
ENST00000684341.1:n.3103C>G
ENST00000684383.1:c.*2721C>G ENSP00000506863.1:n.*2721C>G
ENST00000684619.1:c.*2955C>G ENSP00000508088.1:n.*2955C>G
ENST00000684705.1:n.204C>G
ENST00000684743.1:n.4114C>G
ENST00000260665.12:c.3083C>G MANE Select ENSP00000260665.7:p.Ala1028Gly
ENST00000260665.11:c.3083C>G ENSP00000260665.7:p.Ala1028Gly
NM_133259.3:c.3083C>G NP_573566.2:p.Ala1028Gly
XM_006711915.2:c.3005C>G XP_006711978.1:p.Ala1002Gly
XM_006711916.2:c.3083C>G XP_006711979.1:p.Ala1028Gly
XM_011532473.1:c.3083C>G XP_011530775.1:p.Ala1028Gly
XM_011532474.1:c.3083C>G XP_011530776.1:p.Ala1028Gly
XM_006711916.3:c.3083C>G XP_006711979.1:p.Ala1028Gly
XM_017003117.1:c.3005C>G XP_016858606.1:p.Ala1002Gly
XR_002958896.1:n.3125C>G
NM_133259.4:c.3083C>G MANE Select NP_573566.2:p.Ala1028Gly