Canonical Allele Identifier: CA425909118

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1185348937
• gnomAD v3: 2-43894602-A-G
• gnomAD v4: 2-43894602-A-G
• MyVariant Identifiers: chr2:g.44121741A>G (hg19) ; chr2:g.43894602A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894602A>G , CM000664.2:g.43894602A>G	GRCh38
NC_000002.11:g.44121741A>G , CM000664.1:g.44121741A>G	GRCh37
NC_000002.10:g.43975245A>G	NCBI36
NG_008247.1:g.106404T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.558T>C
ENST00000681993.1:n.1480T>C
ENST00000682154.1:n.1362T>C
ENST00000682303.1:c.*3639T>C	ENSP00000508325.1:n.*3639T>C
ENST00000682308.1:c.3853T>C	ENSP00000507056.1:p.Leu1285=
ENST00000682434.1:n.3483T>C
ENST00000682480.1:c.3946T>C	ENSP00000508344.1:p.Leu1316=
ENST00000682546.1:c.3925T>C	ENSP00000508188.1:p.Leu1309=
ENST00000682585.1:c.*56T>C	ENSP00000506885.1:n.*56T>C
ENST00000682607.1:c.2671T>C
ENST00000682612.1:c.752+2032T>C
ENST00000682696.1:c.28T>C	ENSP00000508411.1:p.Leu10=
ENST00000682779.1:c.3919T>C	ENSP00000507947.1:p.Leu1307=
ENST00000682885.1:c.3883T>C	ENSP00000508036.1:p.Leu1295=
ENST00000682933.1:n.4128T>C
ENST00000683002.1:c.780T>C
ENST00000683072.1:n.4512T>C
ENST00000683080.1:n.1547T>C
ENST00000683096.1:n.2369T>C
ENST00000683125.1:c.4036T>C	ENSP00000507939.1:p.Leu1346=
ENST00000683213.1:c.3931T>C	ENSP00000507751.1:p.Leu1311=
ENST00000683220.1:c.3958T>C	ENSP00000507151.1:p.Leu1320=
ENST00000683329.1:n.4731T>C
ENST00000683346.1:c.*3803T>C	ENSP00000507458.1:n.*3803T>C
ENST00000683409.1:n.2460T>C
ENST00000683459.1:n.4515T>C
ENST00000683590.1:c.3601T>C	ENSP00000506820.1:p.Leu1201=
ENST00000683623.1:c.3835T>C	ENSP00000507702.1:p.Leu1279=
ENST00000683796.1:c.*3725T>C	ENSP00000508221.1:n.*3725T>C
ENST00000683833.1:c.3844T>C	ENSP00000506852.1:p.Leu1282=
ENST00000683994.1:c.*41T>C	ENSP00000507181.1:n.*41T>C
ENST00000684290.1:c.*1389T>C	ENSP00000507243.1:n.*1389T>C
ENST00000684306.1:c.*3841T>C	ENSP00000508384.1:n.*3841T>C
ENST00000684383.1:c.*3566T>C	ENSP00000506863.1:n.*3566T>C
ENST00000684418.1:n.5109T>C
ENST00000684433.1:n.312T>C
ENST00000684454.1:n.7792T>C
ENST00000684619.1:c.*3800T>C	ENSP00000508088.1:n.*3800T>C
ENST00000684743.1:n.6673T>C
ENST00000260665.12:c.3928T>C MANE Select	ENSP00000260665.7:p.Leu1310=
ENST00000260665.11:c.3928T>C	ENSP00000260665.7:p.Leu1310=
ENST00000419884.5:c.169T>C	ENSP00000414207.1:p.Leu57=
ENST00000463456.5:n.2971T>C
NM_133259.3:c.3928T>C	NP_573566.2:p.Leu1310=
XM_006711915.2:c.3850T>C	XP_006711978.1:p.Leu1284=
XM_011532473.1:c.3853T>C	XP_011530775.1:p.Leu1285=
XM_011532474.1:c.3928T>C	XP_011530776.1:p.Leu1310=
XM_017003117.1:c.3775T>C	XP_016858606.1:p.Leu1259=
XR_002958896.1:n.3970T>C
NM_133259.4:c.3928T>C MANE Select	NP_573566.2:p.Leu1310=