Canonical Allele Identifier: CA2658836685
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43905786-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905786A>G , CM000664.2:g.43905786A>G GRCh38
NC_000002.11:g.44132925A>G , CM000664.1:g.44132925A>G GRCh37
NC_000002.10:g.43986429A>G NCBI36
NG_008247.1:g.95220T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.355-6T>C
ENST00000681993.1:n.828-6T>C
ENST00000682295.1:c.431-6T>C ENSP00000507499.1:n.431-6T>C
ENST00000682303.1:c.*3062-6T>C ENSP00000508325.1:n.*3062-6T>C
ENST00000682308.1:c.3276-6T>C ENSP00000507056.1:n.3276-6T>C
ENST00000682480.1:c.3294-6T>C ENSP00000508344.1:n.3294-6T>C
ENST00000682546.1:c.3273-6T>C ENSP00000508188.1:n.3273-6T>C
ENST00000682585.1:c.3276-6T>C ENSP00000506885.1:n.3276-6T>C
ENST00000682595.1:n.3860-6T>C
ENST00000682607.1:c.1694-6T>C
ENST00000682612.1:c.128-6T>C
ENST00000682779.1:c.3267-6T>C ENSP00000507947.1:n.3267-6T>C
ENST00000682845.1:n.2378-6T>C
ENST00000682885.1:c.3231-6T>C ENSP00000508036.1:n.3231-6T>C
ENST00000682933.1:n.3350-6T>C
ENST00000683002.1:c.128-6T>C
ENST00000683072.1:n.3860-6T>C
ENST00000683080.1:n.895-6T>C
ENST00000683125.1:c.3384-6T>C ENSP00000507939.1:n.3384-6T>C
ENST00000683213.1:c.3279-6T>C ENSP00000507751.1:n.3279-6T>C
ENST00000683220.1:c.3306-6T>C ENSP00000507151.1:n.3306-6T>C
ENST00000683329.1:n.4079-6T>C
ENST00000683346.1:c.*3151-6T>C ENSP00000507458.1:n.*3151-6T>C
ENST00000683409.1:n.1883-6T>C
ENST00000683459.1:n.3863-6T>C
ENST00000683528.1:c.128-6T>C
ENST00000683590.1:c.3024-6T>C ENSP00000506820.1:n.3024-6T>C
ENST00000683623.1:c.3183-6T>C ENSP00000507702.1:n.3183-6T>C
ENST00000683645.1:n.3827-6T>C
ENST00000683796.1:c.*3148-6T>C ENSP00000508221.1:n.*3148-6T>C
ENST00000683802.1:n.6201-6T>C
ENST00000683833.1:c.3267-6T>C ENSP00000506852.1:n.3267-6T>C
ENST00000683994.1:c.3276-6T>C ENSP00000507181.1:n.3276-6T>C
ENST00000684290.1:c.*812-6T>C ENSP00000507243.1:n.*812-6T>C
ENST00000684306.1:c.*3189-6T>C ENSP00000508384.1:n.*3189-6T>C
ENST00000684341.1:n.3296-6T>C
ENST00000684383.1:c.*2914-6T>C ENSP00000506863.1:n.*2914-6T>C
ENST00000684418.1:n.4457-6T>C
ENST00000684454.1:n.2626-6T>C
ENST00000684619.1:c.*3148-6T>C ENSP00000508088.1:n.*3148-6T>C
ENST00000684743.1:n.4307-6T>C
ENST00000260665.12:c.3276-6T>C MANE Select ENSP00000260665.7:n.3276-6T>C
ENST00000260665.11:c.3276-6T>C ENSP00000260665.7:n.3276-6T>C
NM_133259.3:c.3276-6T>C NP_573566.2:n.3276-6T>C
XM_006711915.2:c.3198-6T>C XP_006711978.1:n.3198-6T>C
XM_011532473.1:c.3276-6T>C XP_011530775.1:n.3276-6T>C
XM_011532474.1:c.3276-6T>C XP_011530776.1:n.3276-6T>C
XM_017003117.1:c.3198-6T>C XP_016858606.1:n.3198-6T>C
XR_002958896.1:n.3318-6T>C
NM_133259.4:c.3276-6T>C MANE Select NP_573566.2:n.3276-6T>C