Canonical Allele Identifier: CA2658834431
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43899337-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899337G>A , CM000664.2:g.43899337G>A GRCh38
NC_000002.11:g.44126476G>A , CM000664.1:g.44126476G>A GRCh37
NC_000002.10:g.43979980G>A NCBI36
NG_008247.1:g.101669C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.141-3C>T
ENST00000472420.6:n.789-3C>T
ENST00000483489.2:n.141-3C>T
ENST00000681993.1:n.1262-3C>T
ENST00000682303.1:c.*3496-3C>T ENSP00000508325.1:n.*3496-3C>T
ENST00000682308.1:c.3710-3C>T ENSP00000507056.1:n.3710-3C>T
ENST00000682434.1:n.1261-3C>T
ENST00000682480.1:c.3728-3C>T ENSP00000508344.1:n.3728-3C>T
ENST00000682546.1:c.3707-3C>T ENSP00000508188.1:n.3707-3C>T
ENST00000682585.1:c.3710-3C>T ENSP00000506885.1:n.3710-3C>T
ENST00000682595.1:n.4294-3C>T
ENST00000682607.1:c.2128-3C>T
ENST00000682612.1:c.562-3C>T
ENST00000682779.1:c.3701-3C>T ENSP00000507947.1:n.3701-3C>T
ENST00000682845.1:n.2812-3C>T
ENST00000682885.1:c.3665-3C>T ENSP00000508036.1:n.3665-3C>T
ENST00000682933.1:n.3784-3C>T
ENST00000683002.1:c.562-3C>T
ENST00000683072.1:n.4294-3C>T
ENST00000683080.1:n.1329-3C>T
ENST00000683125.1:c.3818-3C>T ENSP00000507939.1:n.3818-3C>T
ENST00000683213.1:c.3713-3C>T ENSP00000507751.1:n.3713-3C>T
ENST00000683220.1:c.3740-3C>T ENSP00000507151.1:n.3740-3C>T
ENST00000683329.1:n.4513-3C>T
ENST00000683346.1:c.*3585-3C>T ENSP00000507458.1:n.*3585-3C>T
ENST00000683409.1:n.2317-3C>T
ENST00000683459.1:n.4297-3C>T
ENST00000683528.1:c.638-3C>T
ENST00000683590.1:c.3458-3C>T ENSP00000506820.1:n.3458-3C>T
ENST00000683623.1:c.3617-3C>T ENSP00000507702.1:n.3617-3C>T
ENST00000683645.1:n.4261-3C>T
ENST00000683796.1:c.*3582-3C>T ENSP00000508221.1:n.*3582-3C>T
ENST00000683802.1:n.6635-3C>T
ENST00000683833.1:c.3701-3C>T ENSP00000506852.1:n.3701-3C>T
ENST00000683994.1:c.3710-3C>T ENSP00000507181.1:n.3710-3C>T
ENST00000684290.1:c.*1246-3C>T ENSP00000507243.1:n.*1246-3C>T
ENST00000684306.1:c.*3623-3C>T ENSP00000508384.1:n.*3623-3C>T
ENST00000684341.1:n.3730-3C>T
ENST00000684383.1:c.*3348-3C>T ENSP00000506863.1:n.*3348-3C>T
ENST00000684418.1:n.4891-3C>T
ENST00000684433.1:n.91C>T
ENST00000684454.1:n.3060-3C>T
ENST00000684619.1:c.*3582-3C>T ENSP00000508088.1:n.*3582-3C>T
ENST00000684743.1:n.6455-3C>T
ENST00000260665.12:c.3710-3C>T MANE Select ENSP00000260665.7:n.3710-3C>T
ENST00000260665.11:c.3710-3C>T ENSP00000260665.7:n.3710-3C>T
ENST00000463456.5:n.2753-3C>T
ENST00000472420.5:n.107-3C>T
ENST00000483489.1:n.184-3C>T
NM_133259.3:c.3710-3C>T NP_573566.2:n.3710-3C>T
XM_006711915.2:c.3632-3C>T XP_006711978.1:n.3632-3C>T
XM_011532473.1:c.3710-3C>T XP_011530775.1:n.3710-3C>T
XM_011532474.1:c.3710-3C>T XP_011530776.1:n.3710-3C>T
XM_017003117.1:c.3632-3C>T XP_016858606.1:n.3632-3C>T
XR_002958896.1:n.3752-3C>T
NM_133259.4:c.3710-3C>T MANE Select NP_573566.2:n.3710-3C>T