Canonical Allele Identifier: CA2658837121
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43918440-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918440T>A , CM000664.2:g.43918440T>A GRCh38
NC_000002.11:g.44145579T>A , CM000664.1:g.44145579T>A GRCh37
NC_000002.10:g.43999083T>A NCBI36
NG_008247.1:g.82566A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.407A>T
ENST00000682295.1:c.161-42A>T ENSP00000507499.1:n.161-42A>T
ENST00000682303.1:c.*2683-42A>T ENSP00000508325.1:n.*2683-42A>T
ENST00000682308.1:c.2897-42A>T ENSP00000507056.1:n.2897-42A>T
ENST00000682480.1:c.2897-42A>T ENSP00000508344.1:n.2897-42A>T
ENST00000682546.1:c.2894-42A>T ENSP00000508188.1:n.2894-42A>T
ENST00000682585.1:c.2897-42A>T ENSP00000506885.1:n.2897-42A>T
ENST00000682595.1:n.3481-42A>T
ENST00000682607.1:c.1315-42A>T
ENST00000682779.1:c.2888-42A>T ENSP00000507947.1:n.2888-42A>T
ENST00000682845.1:n.1999-42A>T
ENST00000682885.1:c.2852-42A>T ENSP00000508036.1:n.2852-42A>T
ENST00000682933.1:n.2971-42A>T
ENST00000683072.1:n.3481-42A>T
ENST00000683080.1:n.516-42A>T
ENST00000683125.1:c.3005-42A>T ENSP00000507939.1:n.3005-42A>T
ENST00000683213.1:c.2900-42A>T ENSP00000507751.1:n.2900-42A>T
ENST00000683220.1:c.2927-42A>T ENSP00000507151.1:n.2927-42A>T
ENST00000683236.1:c.227-42A>T ENSP00000506891.1:n.227-42A>T
ENST00000683329.1:n.3700-42A>T
ENST00000683346.1:c.*2772-42A>T ENSP00000507458.1:n.*2772-42A>T
ENST00000683409.1:n.1462A>T
ENST00000683459.1:n.3484-42A>T
ENST00000683590.1:c.2897-5882A>T ENSP00000506820.1:n.2897-5882A>T
ENST00000683623.1:c.2804-42A>T ENSP00000507702.1:n.2804-42A>T
ENST00000683645.1:n.3448-42A>T
ENST00000683796.1:c.*2769-42A>T ENSP00000508221.1:n.*2769-42A>T
ENST00000683802.1:n.5822-42A>T
ENST00000683833.1:c.2888-42A>T ENSP00000506852.1:n.2888-42A>T
ENST00000683994.1:c.2897-42A>T ENSP00000507181.1:n.2897-42A>T
ENST00000684290.1:c.*433-42A>T ENSP00000507243.1:n.*433-42A>T
ENST00000684306.1:c.*2810-42A>T ENSP00000508384.1:n.*2810-42A>T
ENST00000684341.1:n.2917-42A>T
ENST00000684383.1:c.*2535-42A>T ENSP00000506863.1:n.*2535-42A>T
ENST00000684619.1:c.*2769-42A>T ENSP00000508088.1:n.*2769-42A>T
ENST00000684743.1:n.3928-42A>T
ENST00000260665.12:c.2897-42A>T MANE Select ENSP00000260665.7:n.2897-42A>T
ENST00000260665.11:c.2897-42A>T ENSP00000260665.7:n.2897-42A>T
NM_133259.3:c.2897-42A>T NP_573566.2:n.2897-42A>T
XM_006711915.2:c.2819-42A>T XP_006711978.1:n.2819-42A>T
XM_006711916.2:c.2897-42A>T XP_006711979.1:n.2897-42A>T
XM_011532473.1:c.2897-42A>T XP_011530775.1:n.2897-42A>T
XM_011532474.1:c.2897-42A>T XP_011530776.1:n.2897-42A>T
XM_006711916.3:c.2897-42A>T XP_006711979.1:n.2897-42A>T
XM_017003117.1:c.2819-42A>T XP_016858606.1:n.2819-42A>T
XR_002958896.1:n.2939-42A>T
NM_133259.4:c.2897-42A>T MANE Select NP_573566.2:n.2897-42A>T