Canonical Allele Identifier: CA1029985110
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1670796889
gnomAD v3: 2-43899140-C-T
gnomAD v4: 2-43899140-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899140C>T , CM000664.2:g.43899140C>T GRCh38
NC_000002.11:g.44126279C>T , CM000664.1:g.44126279C>T GRCh37
NC_000002.10:g.43979783C>T NCBI36
NG_008247.1:g.101866G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000419884.6:c.256+79G>A
ENST00000472420.6:n.904+79G>A
ENST00000483489.2:n.256+79G>A
ENST00000681993.1:n.1377+79G>A
ENST00000682303.1:c.*3611+79G>A ENSP00000508325.1:n.*3611+79G>A
ENST00000682308.1:c.3825+79G>A ENSP00000507056.1:n.3825+79G>A
ENST00000682434.1:n.1376+79G>A
ENST00000682480.1:c.3843+79G>A ENSP00000508344.1:n.3843+79G>A
ENST00000682546.1:c.3822+79G>A ENSP00000508188.1:n.3822+79G>A
ENST00000682585.1:c.3825+79G>A ENSP00000506885.1:n.3825+79G>A
ENST00000682595.1:n.4409+79G>A
ENST00000682607.1:c.2243+79G>A
ENST00000682612.1:c.677+79G>A
ENST00000682779.1:c.3816+79G>A ENSP00000507947.1:n.3816+79G>A
ENST00000682885.1:c.3780+79G>A ENSP00000508036.1:n.3780+79G>A
ENST00000682933.1:n.3899+79G>A
ENST00000683002.1:c.677+79G>A
ENST00000683072.1:n.4409+79G>A
ENST00000683080.1:n.1444+79G>A
ENST00000683125.1:c.3933+79G>A ENSP00000507939.1:n.3933+79G>A
ENST00000683213.1:c.3828+79G>A ENSP00000507751.1:n.3828+79G>A
ENST00000683220.1:c.3855+79G>A ENSP00000507151.1:n.3855+79G>A
ENST00000683329.1:n.4628+79G>A
ENST00000683346.1:c.*3700+79G>A ENSP00000507458.1:n.*3700+79G>A
ENST00000683409.1:n.2432+79G>A
ENST00000683459.1:n.4412+79G>A
ENST00000683590.1:c.3573+79G>A ENSP00000506820.1:n.3573+79G>A
ENST00000683623.1:c.3732+79G>A ENSP00000507702.1:n.3732+79G>A
ENST00000683645.1:n.4455G>A
ENST00000683796.1:c.*3697+79G>A ENSP00000508221.1:n.*3697+79G>A
ENST00000683833.1:c.3816+79G>A ENSP00000506852.1:n.3816+79G>A
ENST00000683994.1:c.3825+79G>A ENSP00000507181.1:n.3825+79G>A
ENST00000684290.1:c.*1361+79G>A ENSP00000507243.1:n.*1361+79G>A
ENST00000684306.1:c.*3738+79G>A ENSP00000508384.1:n.*3738+79G>A
ENST00000684341.1:n.3845+79G>A
ENST00000684383.1:c.*3463+79G>A ENSP00000506863.1:n.*3463+79G>A
ENST00000684418.1:n.5006+79G>A
ENST00000684433.1:n.209+79G>A
ENST00000684454.1:n.3254G>A
ENST00000684619.1:c.*3697+79G>A ENSP00000508088.1:n.*3697+79G>A
ENST00000684743.1:n.6570+79G>A
ENST00000260665.12:c.3825+79G>A MANE Select ENSP00000260665.7:n.3825+79G>A
ENST00000260665.11:c.3825+79G>A ENSP00000260665.7:n.3825+79G>A
ENST00000419884.5:c.66+79G>A ENSP00000414207.1:n.66+79G>A
ENST00000463456.5:n.2868+79G>A
ENST00000472420.5:n.222+79G>A
ENST00000483489.1:n.299+79G>A
NM_133259.3:c.3825+79G>A NP_573566.2:n.3825+79G>A
XM_006711915.2:c.3747+79G>A XP_006711978.1:n.3747+79G>A
XM_011532473.1:c.3825+79G>A XP_011530775.1:n.3825+79G>A
XM_011532474.1:c.3825+79G>A XP_011530776.1:n.3825+79G>A
XM_017003117.1:c.3747+79G>A XP_016858606.1:n.3747+79G>A
XR_002958896.1:n.3867+79G>A
NM_133259.4:c.3825+79G>A MANE Select NP_573566.2:n.3825+79G>A