Canonical Allele Identifier: CA346664954

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1267357223
• gnomAD v2: 2-44132859-T-C
• gnomAD v4: 2-43905720-T-C
• MyVariant Identifiers: chr2:g.44132859T>C (hg19) ; chr2:g.43905720T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905720T>C , CM000664.2:g.43905720T>C	GRCh38
NC_000002.11:g.44132859T>C , CM000664.1:g.44132859T>C	GRCh37
NC_000002.10:g.43986363T>C	NCBI36
NG_008247.1:g.95286A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.415A>G
ENST00000681993.1:n.888A>G
ENST00000682295.1:c.491A>G	ENSP00000507499.1:n.491A>G
ENST00000682303.1:c.*3122A>G	ENSP00000508325.1:n.*3122A>G
ENST00000682308.1:c.3336A>G	ENSP00000507056.1:p.Ile1112Met
ENST00000682480.1:c.3354A>G	ENSP00000508344.1:p.Ile1118Met
ENST00000682546.1:c.3333A>G	ENSP00000508188.1:p.Ile1111Met
ENST00000682585.1:c.3336A>G	ENSP00000506885.1:p.Ile1112Met
ENST00000682595.1:n.3920A>G
ENST00000682607.1:c.1754A>G
ENST00000682612.1:c.188A>G
ENST00000682779.1:c.3327A>G	ENSP00000507947.1:p.Ile1109Met
ENST00000682845.1:n.2438A>G
ENST00000682885.1:c.3291A>G	ENSP00000508036.1:p.Ile1097Met
ENST00000682933.1:n.3410A>G
ENST00000683002.1:c.188A>G
ENST00000683072.1:n.3920A>G
ENST00000683080.1:n.955A>G
ENST00000683125.1:c.3444A>G	ENSP00000507939.1:p.Ile1148Met
ENST00000683213.1:c.3339A>G	ENSP00000507751.1:p.Ile1113Met
ENST00000683220.1:c.3366A>G	ENSP00000507151.1:p.Ile1122Met
ENST00000683329.1:n.4139A>G
ENST00000683346.1:c.*3211A>G	ENSP00000507458.1:n.*3211A>G
ENST00000683409.1:n.1943A>G
ENST00000683459.1:n.3923A>G
ENST00000683528.1:c.188A>G
ENST00000683590.1:c.3084A>G	ENSP00000506820.1:p.Ile1028Met
ENST00000683623.1:c.3243A>G	ENSP00000507702.1:p.Ile1081Met
ENST00000683645.1:n.3887A>G
ENST00000683796.1:c.*3208A>G	ENSP00000508221.1:n.*3208A>G
ENST00000683802.1:n.6261A>G
ENST00000683833.1:c.3327A>G	ENSP00000506852.1:p.Ile1109Met
ENST00000683994.1:c.3336A>G	ENSP00000507181.1:p.Ile1112Met
ENST00000684290.1:c.*872A>G	ENSP00000507243.1:n.*872A>G
ENST00000684306.1:c.*3249A>G	ENSP00000508384.1:n.*3249A>G
ENST00000684341.1:n.3356A>G
ENST00000684383.1:c.*2974A>G	ENSP00000506863.1:n.*2974A>G
ENST00000684418.1:n.4517A>G
ENST00000684454.1:n.2686A>G
ENST00000684619.1:c.*3208A>G	ENSP00000508088.1:n.*3208A>G
ENST00000684743.1:n.4367A>G
ENST00000260665.12:c.3336A>G MANE Select	ENSP00000260665.7:p.Ile1112Met
ENST00000260665.11:c.3336A>G	ENSP00000260665.7:p.Ile1112Met
NM_133259.3:c.3336A>G	NP_573566.2:p.Ile1112Met
XM_006711915.2:c.3258A>G	XP_006711978.1:p.Ile1086Met
XM_011532473.1:c.3336A>G	XP_011530775.1:p.Ile1112Met
XM_011532474.1:c.3336A>G	XP_011530776.1:p.Ile1112Met
XM_017003117.1:c.3258A>G	XP_016858606.1:p.Ile1086Met
XR_002958896.1:n.3378A>G
NM_133259.4:c.3336A>G MANE Select	NP_573566.2:p.Ile1112Met