Canonical Allele Identifier: CA2749706997
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905518C>T , CM000664.2:g.43905518C>T GRCh38
NC_000002.11:g.44132657C>T , CM000664.1:g.44132657C>T GRCh37
NC_000002.10:g.43986161C>T NCBI36
NG_008247.1:g.95488G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.443+174G>A
ENST00000681993.1:n.916+174G>A
ENST00000682303.1:c.*3150+174G>A ENSP00000508325.1:n.*3150+174G>A
ENST00000682308.1:c.3364+174G>A ENSP00000507056.1:n.3364+174G>A
ENST00000682480.1:c.3382+174G>A ENSP00000508344.1:n.3382+174G>A
ENST00000682546.1:c.3361+174G>A ENSP00000508188.1:n.3361+174G>A
ENST00000682585.1:c.3364+174G>A ENSP00000506885.1:n.3364+174G>A
ENST00000682595.1:n.3948+174G>A
ENST00000682607.1:c.1782+174G>A
ENST00000682612.1:c.216+174G>A
ENST00000682779.1:c.3355+174G>A ENSP00000507947.1:n.3355+174G>A
ENST00000682845.1:n.2466+174G>A
ENST00000682885.1:c.3319+174G>A ENSP00000508036.1:n.3319+174G>A
ENST00000682933.1:n.3438+174G>A
ENST00000683002.1:c.216+174G>A
ENST00000683072.1:n.3948+174G>A
ENST00000683080.1:n.983+174G>A
ENST00000683125.1:c.3472+174G>A ENSP00000507939.1:n.3472+174G>A
ENST00000683213.1:c.3367+174G>A ENSP00000507751.1:n.3367+174G>A
ENST00000683220.1:c.3394+174G>A ENSP00000507151.1:n.3394+174G>A
ENST00000683329.1:n.4167+174G>A
ENST00000683346.1:c.*3239+174G>A ENSP00000507458.1:n.*3239+174G>A
ENST00000683409.1:n.1971+174G>A
ENST00000683459.1:n.3951+174G>A
ENST00000683528.1:c.216+174G>A
ENST00000683590.1:c.3112+174G>A ENSP00000506820.1:n.3112+174G>A
ENST00000683623.1:c.3271+174G>A ENSP00000507702.1:n.3271+174G>A
ENST00000683645.1:n.3915+174G>A
ENST00000683796.1:c.*3236+174G>A ENSP00000508221.1:n.*3236+174G>A
ENST00000683802.1:n.6289+174G>A
ENST00000683833.1:c.3355+174G>A ENSP00000506852.1:n.3355+174G>A
ENST00000683994.1:c.3364+174G>A ENSP00000507181.1:n.3364+174G>A
ENST00000684290.1:c.*900+174G>A ENSP00000507243.1:n.*900+174G>A
ENST00000684306.1:c.*3277+174G>A ENSP00000508384.1:n.*3277+174G>A
ENST00000684341.1:n.3384+174G>A
ENST00000684383.1:c.*3002+174G>A ENSP00000506863.1:n.*3002+174G>A
ENST00000684418.1:n.4545+174G>A
ENST00000684454.1:n.2714+174G>A
ENST00000684619.1:c.*3236+174G>A ENSP00000508088.1:n.*3236+174G>A
ENST00000684743.1:n.4395+174G>A
ENST00000260665.12:c.3364+174G>A MANE Select ENSP00000260665.7:n.3364+174G>A
ENST00000260665.11:c.3364+174G>A ENSP00000260665.7:n.3364+174G>A
NM_133259.3:c.3364+174G>A NP_573566.2:n.3364+174G>A
XM_006711915.2:c.3286+174G>A XP_006711978.1:n.3286+174G>A
XM_011532473.1:c.3364+174G>A XP_011530775.1:n.3364+174G>A
XM_011532474.1:c.3364+174G>A XP_011530776.1:n.3364+174G>A
XM_017003117.1:c.3286+174G>A XP_016858606.1:n.3286+174G>A
XR_002958896.1:n.3406+174G>A
NM_133259.4:c.3364+174G>A MANE Select NP_573566.2:n.3364+174G>A