Canonical Allele Identifier: CA647007070
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905644A>C , CM000664.2:g.43905644A>C GRCh38
NC_000002.11:g.44132783A>C , CM000664.1:g.44132783A>C GRCh37
NC_000002.10:g.43986287A>C NCBI36
NG_008247.1:g.95362T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.443+48T>G
ENST00000681993.1:n.916+48T>G
ENST00000682303.1:c.*3150+48T>G ENSP00000508325.1:n.*3150+48T>G
ENST00000682308.1:c.3364+48T>G ENSP00000507056.1:n.3364+48T>G
ENST00000682480.1:c.3382+48T>G ENSP00000508344.1:n.3382+48T>G
ENST00000682546.1:c.3361+48T>G ENSP00000508188.1:n.3361+48T>G
ENST00000682585.1:c.3364+48T>G ENSP00000506885.1:n.3364+48T>G
ENST00000682595.1:n.3948+48T>G
ENST00000682607.1:c.1782+48T>G
ENST00000682612.1:c.216+48T>G
ENST00000682779.1:c.3355+48T>G ENSP00000507947.1:n.3355+48T>G
ENST00000682845.1:n.2466+48T>G
ENST00000682885.1:c.3319+48T>G ENSP00000508036.1:n.3319+48T>G
ENST00000682933.1:n.3438+48T>G
ENST00000683002.1:c.216+48T>G
ENST00000683072.1:n.3948+48T>G
ENST00000683080.1:n.983+48T>G
ENST00000683125.1:c.3472+48T>G ENSP00000507939.1:n.3472+48T>G
ENST00000683213.1:c.3367+48T>G ENSP00000507751.1:n.3367+48T>G
ENST00000683220.1:c.3394+48T>G ENSP00000507151.1:n.3394+48T>G
ENST00000683329.1:n.4167+48T>G
ENST00000683346.1:c.*3239+48T>G ENSP00000507458.1:n.*3239+48T>G
ENST00000683409.1:n.1971+48T>G
ENST00000683459.1:n.3951+48T>G
ENST00000683528.1:c.216+48T>G
ENST00000683590.1:c.3112+48T>G ENSP00000506820.1:n.3112+48T>G
ENST00000683623.1:c.3271+48T>G ENSP00000507702.1:n.3271+48T>G
ENST00000683645.1:n.3915+48T>G
ENST00000683796.1:c.*3236+48T>G ENSP00000508221.1:n.*3236+48T>G
ENST00000683802.1:n.6289+48T>G
ENST00000683833.1:c.3355+48T>G ENSP00000506852.1:n.3355+48T>G
ENST00000683994.1:c.3364+48T>G ENSP00000507181.1:n.3364+48T>G
ENST00000684290.1:c.*900+48T>G ENSP00000507243.1:n.*900+48T>G
ENST00000684306.1:c.*3277+48T>G ENSP00000508384.1:n.*3277+48T>G
ENST00000684341.1:n.3384+48T>G
ENST00000684383.1:c.*3002+48T>G ENSP00000506863.1:n.*3002+48T>G
ENST00000684418.1:n.4545+48T>G
ENST00000684454.1:n.2714+48T>G
ENST00000684619.1:c.*3236+48T>G ENSP00000508088.1:n.*3236+48T>G
ENST00000684743.1:n.4395+48T>G
ENST00000260665.12:c.3364+48T>G MANE Select ENSP00000260665.7:n.3364+48T>G
ENST00000260665.11:c.3364+48T>G ENSP00000260665.7:n.3364+48T>G
NM_133259.3:c.3364+48T>G NP_573566.2:n.3364+48T>G
XM_006711915.2:c.3286+48T>G XP_006711978.1:n.3286+48T>G
XM_011532473.1:c.3364+48T>G XP_011530775.1:n.3364+48T>G
XM_011532474.1:c.3364+48T>G XP_011530776.1:n.3364+48T>G
XM_017003117.1:c.3286+48T>G XP_016858606.1:n.3286+48T>G
XR_002958896.1:n.3406+48T>G
NM_133259.4:c.3364+48T>G MANE Select NP_573566.2:n.3364+48T>G