Canonical Allele Identifier: CA346668608
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918360T>A , CM000664.2:g.43918360T>A GRCh38
NC_000002.11:g.44145499T>A , CM000664.1:g.44145499T>A GRCh37
NC_000002.10:g.43999003T>A NCBI36
NG_008247.1:g.82646A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.487A>T
ENST00000682295.1:c.199A>T ENSP00000507499.1:p.Asn67Tyr
ENST00000682303.1:c.*2721A>T ENSP00000508325.1:n.*2721A>T
ENST00000682308.1:c.2935A>T ENSP00000507056.1:p.Asn979Tyr
ENST00000682480.1:c.2935A>T ENSP00000508344.1:p.Asn979Tyr
ENST00000682546.1:c.2932A>T ENSP00000508188.1:p.Asn978Tyr
ENST00000682585.1:c.2935A>T ENSP00000506885.1:p.Asn979Tyr
ENST00000682595.1:n.3519A>T
ENST00000682607.1:c.1353A>T
ENST00000682779.1:c.2926A>T ENSP00000507947.1:p.Asn976Tyr
ENST00000682845.1:n.2037A>T
ENST00000682885.1:c.2890A>T ENSP00000508036.1:p.Asn964Tyr
ENST00000682933.1:n.3009A>T
ENST00000683072.1:n.3519A>T
ENST00000683080.1:n.554A>T
ENST00000683125.1:c.3043A>T ENSP00000507939.1:p.Asn1015Tyr
ENST00000683213.1:c.2938A>T ENSP00000507751.1:p.Asn980Tyr
ENST00000683220.1:c.2965A>T ENSP00000507151.1:p.Asn989Tyr
ENST00000683236.1:c.265A>T ENSP00000506891.1:n.265A>T
ENST00000683329.1:n.3738A>T
ENST00000683346.1:c.*2810A>T ENSP00000507458.1:n.*2810A>T
ENST00000683409.1:n.1542A>T
ENST00000683459.1:n.3522A>T
ENST00000683590.1:c.2897-5802A>T ENSP00000506820.1:n.2897-5802A>T
ENST00000683623.1:c.2842A>T ENSP00000507702.1:p.Asn948Tyr
ENST00000683645.1:n.3486A>T
ENST00000683796.1:c.*2807A>T ENSP00000508221.1:n.*2807A>T
ENST00000683802.1:n.5860A>T
ENST00000683833.1:c.2926A>T ENSP00000506852.1:p.Asn976Tyr
ENST00000683994.1:c.2935A>T ENSP00000507181.1:p.Asn979Tyr
ENST00000684290.1:c.*471A>T ENSP00000507243.1:n.*471A>T
ENST00000684306.1:c.*2848A>T ENSP00000508384.1:n.*2848A>T
ENST00000684341.1:n.2955A>T
ENST00000684383.1:c.*2573A>T ENSP00000506863.1:n.*2573A>T
ENST00000684619.1:c.*2807A>T ENSP00000508088.1:n.*2807A>T
ENST00000684705.1:n.56A>T
ENST00000684743.1:n.3966A>T
ENST00000260665.12:c.2935A>T MANE Select ENSP00000260665.7:p.Asn979Tyr
ENST00000260665.11:c.2935A>T ENSP00000260665.7:p.Asn979Tyr
NM_133259.3:c.2935A>T NP_573566.2:p.Asn979Tyr
XM_006711915.2:c.2857A>T XP_006711978.1:p.Asn953Tyr
XM_006711916.2:c.2935A>T XP_006711979.1:p.Asn979Tyr
XM_011532473.1:c.2935A>T XP_011530775.1:p.Asn979Tyr
XM_011532474.1:c.2935A>T XP_011530776.1:p.Asn979Tyr
XM_006711916.3:c.2935A>T XP_006711979.1:p.Asn979Tyr
XM_017003117.1:c.2857A>T XP_016858606.1:p.Asn953Tyr
XR_002958896.1:n.2977A>T
NM_133259.4:c.2935A>T MANE Select NP_573566.2:p.Asn979Tyr