Canonical Allele Identifier: CA1637867

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2808388
• ClinVar RCV Id: RCV003684829
• dbSNP Id: rs755702496
• ExAC: 2:44121664 T / G
• gnomAD v2: 2-44121664-T-G
• gnomAD v4: 2-43894525-T-G
• MyVariant Identifiers: chr2:g.44121664T>G (hg19) ; chr2:g.43894525T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894525T>G , CM000664.2:g.43894525T>G	GRCh38
NC_000002.11:g.44121664T>G , CM000664.1:g.44121664T>G	GRCh37
NC_000002.10:g.43975168T>G	NCBI36
NG_008247.1:g.106481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.615+20A>C
ENST00000681993.1:n.1537+20A>C
ENST00000682154.1:n.1419+20A>C
ENST00000682303.1:c.*3696+20A>C	ENSP00000508325.1:n.*3696+20A>C
ENST00000682308.1:c.3910+20A>C	ENSP00000507056.1:n.3910+20A>C
ENST00000682434.1:n.3540+20A>C
ENST00000682480.1:c.4003+20A>C	ENSP00000508344.1:n.4003+20A>C
ENST00000682546.1:c.3982+20A>C	ENSP00000508188.1:n.3982+20A>C
ENST00000682585.1:c.*113+20A>C	ENSP00000506885.1:n.*113+20A>C
ENST00000682607.1:c.2728+20A>C
ENST00000682612.1:c.752+2109A>C
ENST00000682696.1:c.85+20A>C	ENSP00000508411.1:n.85+20A>C
ENST00000682779.1:c.3976+20A>C	ENSP00000507947.1:n.3976+20A>C
ENST00000682885.1:c.3940+20A>C	ENSP00000508036.1:n.3940+20A>C
ENST00000682933.1:n.4185+20A>C
ENST00000683002.1:c.837+20A>C
ENST00000683072.1:n.4569+20A>C
ENST00000683080.1:n.1604+20A>C
ENST00000683096.1:n.2426+20A>C
ENST00000683125.1:c.4093+20A>C	ENSP00000507939.1:n.4093+20A>C
ENST00000683213.1:c.3988+20A>C	ENSP00000507751.1:n.3988+20A>C
ENST00000683220.1:c.4015+20A>C	ENSP00000507151.1:n.4015+20A>C
ENST00000683329.1:n.4788+20A>C
ENST00000683346.1:c.*3860+20A>C	ENSP00000507458.1:n.*3860+20A>C
ENST00000683409.1:n.2517+20A>C
ENST00000683459.1:n.4572+20A>C
ENST00000683590.1:c.3658+20A>C	ENSP00000506820.1:n.3658+20A>C
ENST00000683623.1:c.3892+20A>C	ENSP00000507702.1:n.3892+20A>C
ENST00000683796.1:c.*3782+20A>C	ENSP00000508221.1:n.*3782+20A>C
ENST00000683833.1:c.3901+20A>C	ENSP00000506852.1:n.3901+20A>C
ENST00000683994.1:c.*98+20A>C	ENSP00000507181.1:n.*98+20A>C
ENST00000684290.1:c.*1446+20A>C	ENSP00000507243.1:n.*1446+20A>C
ENST00000684306.1:c.*3898+20A>C	ENSP00000508384.1:n.*3898+20A>C
ENST00000684383.1:c.*3623+20A>C	ENSP00000506863.1:n.*3623+20A>C
ENST00000684418.1:n.5166+20A>C
ENST00000684433.1:n.369+20A>C
ENST00000684454.1:n.7849+20A>C
ENST00000684619.1:c.*3857+20A>C	ENSP00000508088.1:n.*3857+20A>C
ENST00000684743.1:n.6730+20A>C
ENST00000260665.12:c.3985+20A>C MANE Select	ENSP00000260665.7:n.3985+20A>C
ENST00000260665.11:c.3985+20A>C	ENSP00000260665.7:n.3985+20A>C
ENST00000419884.5:c.226+20A>C	ENSP00000414207.1:n.226+20A>C
ENST00000463456.5:n.3028+20A>C
NM_133259.3:c.3985+20A>C	NP_573566.2:n.3985+20A>C
XM_006711915.2:c.3907+20A>C	XP_006711978.1:n.3907+20A>C
XM_011532473.1:c.3910+20A>C	XP_011530775.1:n.3910+20A>C
XM_011532474.1:c.3985+20A>C	XP_011530776.1:n.3985+20A>C
XM_017003117.1:c.3832+20A>C	XP_016858606.1:n.3832+20A>C
XR_002958896.1:n.4027+20A>C
NM_133259.4:c.3985+20A>C MANE Select	NP_573566.2:n.3985+20A>C