Canonical Allele Identifier: CA1637939

Gene: LRPPRC

Linked Data

• dbSNP Id: rs767486186
• ExAC: 2:44126361 T / G
• gnomAD v2: 2-44126361-T-G
• gnomAD v4: 2-43899222-T-G
• MyVariant Identifiers: chr2:g.44126361T>G (hg19) ; chr2:g.43899222T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899222T>G , CM000664.2:g.43899222T>G	GRCh38
NC_000002.11:g.44126361T>G , CM000664.1:g.44126361T>G	GRCh37
NC_000002.10:g.43979865T>G	NCBI36
NG_008247.1:g.101784A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.253A>C
ENST00000472420.6:n.901A>C
ENST00000483489.2:n.253A>C
ENST00000681993.1:n.1374A>C
ENST00000682303.1:c.*3608A>C	ENSP00000508325.1:n.*3608A>C
ENST00000682308.1:c.3822A>C	ENSP00000507056.1:p.Leu1274=
ENST00000682434.1:n.1373A>C
ENST00000682480.1:c.3840A>C	ENSP00000508344.1:p.Leu1280=
ENST00000682546.1:c.3819A>C	ENSP00000508188.1:p.Leu1273=
ENST00000682585.1:c.3822A>C	ENSP00000506885.1:p.Leu1274=
ENST00000682595.1:n.4406A>C
ENST00000682607.1:c.2240A>C
ENST00000682612.1:c.674A>C
ENST00000682779.1:c.3813A>C	ENSP00000507947.1:p.Leu1271=
ENST00000682885.1:c.3777A>C	ENSP00000508036.1:p.Leu1259=
ENST00000682933.1:n.3896A>C
ENST00000683002.1:c.674A>C
ENST00000683072.1:n.4406A>C
ENST00000683080.1:n.1441A>C
ENST00000683125.1:c.3930A>C	ENSP00000507939.1:p.Leu1310=
ENST00000683213.1:c.3825A>C	ENSP00000507751.1:p.Leu1275=
ENST00000683220.1:c.3852A>C	ENSP00000507151.1:p.Leu1284=
ENST00000683329.1:n.4625A>C
ENST00000683346.1:c.*3697A>C	ENSP00000507458.1:n.*3697A>C
ENST00000683409.1:n.2429A>C
ENST00000683459.1:n.4409A>C
ENST00000683528.1:c.750A>C
ENST00000683590.1:c.3570A>C	ENSP00000506820.1:p.Leu1190=
ENST00000683623.1:c.3729A>C	ENSP00000507702.1:p.Leu1243=
ENST00000683645.1:n.4373A>C
ENST00000683796.1:c.*3694A>C	ENSP00000508221.1:n.*3694A>C
ENST00000683833.1:c.3813A>C	ENSP00000506852.1:p.Leu1271=
ENST00000683994.1:c.3822A>C	ENSP00000507181.1:p.Leu1274=
ENST00000684290.1:c.*1358A>C	ENSP00000507243.1:n.*1358A>C
ENST00000684306.1:c.*3735A>C	ENSP00000508384.1:n.*3735A>C
ENST00000684341.1:n.3842A>C
ENST00000684383.1:c.*3460A>C	ENSP00000506863.1:n.*3460A>C
ENST00000684418.1:n.5003A>C
ENST00000684433.1:n.206A>C
ENST00000684454.1:n.3172A>C
ENST00000684619.1:c.*3694A>C	ENSP00000508088.1:n.*3694A>C
ENST00000684743.1:n.6567A>C
ENST00000260665.12:c.3822A>C MANE Select	ENSP00000260665.7:p.Leu1274=
ENST00000260665.11:c.3822A>C	ENSP00000260665.7:p.Leu1274=
ENST00000419884.5:c.63A>C	ENSP00000414207.1:p.Leu21=
ENST00000463456.5:n.2865A>C
ENST00000472420.5:n.219A>C
ENST00000483489.1:n.296A>C
NM_133259.3:c.3822A>C	NP_573566.2:p.Leu1274=
XM_006711915.2:c.3744A>C	XP_006711978.1:p.Leu1248=
XM_011532473.1:c.3822A>C	XP_011530775.1:p.Leu1274=
XM_011532474.1:c.3822A>C	XP_011530776.1:p.Leu1274=
XM_017003117.1:c.3744A>C	XP_016858606.1:p.Leu1248=
XR_002958896.1:n.3864A>C
NM_133259.4:c.3822A>C MANE Select	NP_573566.2:p.Leu1274=