Canonical Allele Identifier: CA1638089

Gene: LRPPRC

Linked Data

• dbSNP Id: rs758298316
• ExAC: 2:44132848 C / A
• gnomAD v2: 2-44132848-C-A
• gnomAD v3: 2-43905709-C-A
• gnomAD v4: 2-43905709-C-A
• MyVariant Identifiers: chr2:g.44132848C>A (hg19) ; chr2:g.43905709C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905709C>A , CM000664.2:g.43905709C>A	GRCh38
NC_000002.11:g.44132848C>A , CM000664.1:g.44132848C>A	GRCh37
NC_000002.10:g.43986352C>A	NCBI36
NG_008247.1:g.95297G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.426G>T
ENST00000681993.1:n.899G>T
ENST00000682295.1:c.502G>T	ENSP00000507499.1:n.502G>T
ENST00000682303.1:c.*3133G>T	ENSP00000508325.1:n.*3133G>T
ENST00000682308.1:c.3347G>T	ENSP00000507056.1:p.Arg1116Met
ENST00000682480.1:c.3365G>T	ENSP00000508344.1:p.Arg1122Met
ENST00000682546.1:c.3344G>T	ENSP00000508188.1:p.Arg1115Met
ENST00000682585.1:c.3347G>T	ENSP00000506885.1:p.Arg1116Met
ENST00000682595.1:n.3931G>T
ENST00000682607.1:c.1765G>T
ENST00000682612.1:c.199G>T
ENST00000682779.1:c.3338G>T	ENSP00000507947.1:p.Arg1113Met
ENST00000682845.1:n.2449G>T
ENST00000682885.1:c.3302G>T	ENSP00000508036.1:p.Arg1101Met
ENST00000682933.1:n.3421G>T
ENST00000683002.1:c.199G>T
ENST00000683072.1:n.3931G>T
ENST00000683080.1:n.966G>T
ENST00000683125.1:c.3455G>T	ENSP00000507939.1:p.Arg1152Met
ENST00000683213.1:c.3350G>T	ENSP00000507751.1:p.Arg1117Met
ENST00000683220.1:c.3377G>T	ENSP00000507151.1:p.Arg1126Met
ENST00000683329.1:n.4150G>T
ENST00000683346.1:c.*3222G>T	ENSP00000507458.1:n.*3222G>T
ENST00000683409.1:n.1954G>T
ENST00000683459.1:n.3934G>T
ENST00000683528.1:c.199G>T
ENST00000683590.1:c.3095G>T	ENSP00000506820.1:p.Arg1032Met
ENST00000683623.1:c.3254G>T	ENSP00000507702.1:p.Arg1085Met
ENST00000683645.1:n.3898G>T
ENST00000683796.1:c.*3219G>T	ENSP00000508221.1:n.*3219G>T
ENST00000683802.1:n.6272G>T
ENST00000683833.1:c.3338G>T	ENSP00000506852.1:p.Arg1113Met
ENST00000683994.1:c.3347G>T	ENSP00000507181.1:p.Arg1116Met
ENST00000684290.1:c.*883G>T	ENSP00000507243.1:n.*883G>T
ENST00000684306.1:c.*3260G>T	ENSP00000508384.1:n.*3260G>T
ENST00000684341.1:n.3367G>T
ENST00000684383.1:c.*2985G>T	ENSP00000506863.1:n.*2985G>T
ENST00000684418.1:n.4528G>T
ENST00000684454.1:n.2697G>T
ENST00000684619.1:c.*3219G>T	ENSP00000508088.1:n.*3219G>T
ENST00000684743.1:n.4378G>T
ENST00000260665.12:c.3347G>T MANE Select	ENSP00000260665.7:p.Arg1116Met
ENST00000260665.11:c.3347G>T	ENSP00000260665.7:p.Arg1116Met
NM_133259.3:c.3347G>T	NP_573566.2:p.Arg1116Met
XM_006711915.2:c.3269G>T	XP_006711978.1:p.Arg1090Met
XM_011532473.1:c.3347G>T	XP_011530775.1:p.Arg1116Met
XM_011532474.1:c.3347G>T	XP_011530776.1:p.Arg1116Met
XM_017003117.1:c.3269G>T	XP_016858606.1:p.Arg1090Met
XR_002958896.1:n.3389G>T
NM_133259.4:c.3347G>T MANE Select	NP_573566.2:p.Arg1116Met