Canonical Allele Identifier: CA2658836714
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43905803-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905803A>G , CM000664.2:g.43905803A>G GRCh38
NC_000002.11:g.44132942A>G , CM000664.1:g.44132942A>G GRCh37
NC_000002.10:g.43986446A>G NCBI36
NG_008247.1:g.95203T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.355-23T>C
ENST00000681993.1:n.828-23T>C
ENST00000682295.1:c.431-23T>C ENSP00000507499.1:n.431-23T>C
ENST00000682303.1:c.*3062-23T>C ENSP00000508325.1:n.*3062-23T>C
ENST00000682308.1:c.3276-23T>C ENSP00000507056.1:n.3276-23T>C
ENST00000682480.1:c.3294-23T>C ENSP00000508344.1:n.3294-23T>C
ENST00000682546.1:c.3273-23T>C ENSP00000508188.1:n.3273-23T>C
ENST00000682585.1:c.3276-23T>C ENSP00000506885.1:n.3276-23T>C
ENST00000682595.1:n.3860-23T>C
ENST00000682607.1:c.1694-23T>C
ENST00000682612.1:c.128-23T>C
ENST00000682779.1:c.3267-23T>C ENSP00000507947.1:n.3267-23T>C
ENST00000682845.1:n.2378-23T>C
ENST00000682885.1:c.3231-23T>C ENSP00000508036.1:n.3231-23T>C
ENST00000682933.1:n.3350-23T>C
ENST00000683002.1:c.128-23T>C
ENST00000683072.1:n.3860-23T>C
ENST00000683080.1:n.895-23T>C
ENST00000683125.1:c.3384-23T>C ENSP00000507939.1:n.3384-23T>C
ENST00000683213.1:c.3279-23T>C ENSP00000507751.1:n.3279-23T>C
ENST00000683220.1:c.3306-23T>C ENSP00000507151.1:n.3306-23T>C
ENST00000683329.1:n.4079-23T>C
ENST00000683346.1:c.*3151-23T>C ENSP00000507458.1:n.*3151-23T>C
ENST00000683409.1:n.1883-23T>C
ENST00000683459.1:n.3863-23T>C
ENST00000683528.1:c.128-23T>C
ENST00000683590.1:c.3024-23T>C ENSP00000506820.1:n.3024-23T>C
ENST00000683623.1:c.3183-23T>C ENSP00000507702.1:n.3183-23T>C
ENST00000683645.1:n.3827-23T>C
ENST00000683796.1:c.*3148-23T>C ENSP00000508221.1:n.*3148-23T>C
ENST00000683802.1:n.6201-23T>C
ENST00000683833.1:c.3267-23T>C ENSP00000506852.1:n.3267-23T>C
ENST00000683994.1:c.3276-23T>C ENSP00000507181.1:n.3276-23T>C
ENST00000684290.1:c.*812-23T>C ENSP00000507243.1:n.*812-23T>C
ENST00000684306.1:c.*3189-23T>C ENSP00000508384.1:n.*3189-23T>C
ENST00000684341.1:n.3296-23T>C
ENST00000684383.1:c.*2914-23T>C ENSP00000506863.1:n.*2914-23T>C
ENST00000684418.1:n.4457-23T>C
ENST00000684454.1:n.2626-23T>C
ENST00000684619.1:c.*3148-23T>C ENSP00000508088.1:n.*3148-23T>C
ENST00000684743.1:n.4307-23T>C
ENST00000260665.12:c.3276-23T>C MANE Select ENSP00000260665.7:n.3276-23T>C
ENST00000260665.11:c.3276-23T>C ENSP00000260665.7:n.3276-23T>C
NM_133259.3:c.3276-23T>C NP_573566.2:n.3276-23T>C
XM_006711915.2:c.3198-23T>C XP_006711978.1:n.3198-23T>C
XM_011532473.1:c.3276-23T>C XP_011530775.1:n.3276-23T>C
XM_011532474.1:c.3276-23T>C XP_011530776.1:n.3276-23T>C
XM_017003117.1:c.3198-23T>C XP_016858606.1:n.3198-23T>C
XR_002958896.1:n.3318-23T>C
NM_133259.4:c.3276-23T>C MANE Select NP_573566.2:n.3276-23T>C