Canonical Allele Identifier: CA1637983

Gene: LRPPRC

Linked Data

• dbSNP Id: rs752901847
• ExAC: 2:44126584 T / G
• gnomAD v2: 2-44126584-T-G
• gnomAD v4: 2-43899445-T-G
• MyVariant Identifiers: chr2:g.44126584T>G (hg19) ; chr2:g.43899445T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899445T>G , CM000664.2:g.43899445T>G	GRCh38
NC_000002.11:g.44126584T>G , CM000664.1:g.44126584T>G	GRCh37
NC_000002.10:g.43980088T>G	NCBI36
NG_008247.1:g.101561A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000419884.6:c.140+21A>C
ENST00000472420.6:n.788+21A>C
ENST00000483489.2:n.140+21A>C
ENST00000681993.1:n.1261+21A>C
ENST00000682303.1:c.*3495+21A>C	ENSP00000508325.1:n.*3495+21A>C
ENST00000682308.1:c.3709+21A>C	ENSP00000507056.1:n.3709+21A>C
ENST00000682434.1:n.1260+21A>C
ENST00000682480.1:c.3727+21A>C	ENSP00000508344.1:n.3727+21A>C
ENST00000682546.1:c.3706+21A>C	ENSP00000508188.1:n.3706+21A>C
ENST00000682585.1:c.3709+21A>C	ENSP00000506885.1:n.3709+21A>C
ENST00000682595.1:n.4293+21A>C
ENST00000682607.1:c.2127+21A>C
ENST00000682612.1:c.561+21A>C
ENST00000682779.1:c.3700+21A>C	ENSP00000507947.1:n.3700+21A>C
ENST00000682845.1:n.2811+21A>C
ENST00000682885.1:c.3664+21A>C	ENSP00000508036.1:n.3664+21A>C
ENST00000682933.1:n.3783+21A>C
ENST00000683002.1:c.561+21A>C
ENST00000683072.1:n.4293+21A>C
ENST00000683080.1:n.1328+21A>C
ENST00000683125.1:c.3817+21A>C	ENSP00000507939.1:n.3817+21A>C
ENST00000683213.1:c.3712+21A>C	ENSP00000507751.1:n.3712+21A>C
ENST00000683220.1:c.3739+21A>C	ENSP00000507151.1:n.3739+21A>C
ENST00000683329.1:n.4512+21A>C
ENST00000683346.1:c.*3584+21A>C	ENSP00000507458.1:n.*3584+21A>C
ENST00000683409.1:n.2316+21A>C
ENST00000683459.1:n.4296+21A>C
ENST00000683528.1:c.637+21A>C
ENST00000683590.1:c.3457+21A>C	ENSP00000506820.1:n.3457+21A>C
ENST00000683623.1:c.3616+21A>C	ENSP00000507702.1:n.3616+21A>C
ENST00000683645.1:n.4260+21A>C
ENST00000683796.1:c.*3581+21A>C	ENSP00000508221.1:n.*3581+21A>C
ENST00000683802.1:n.6634+21A>C
ENST00000683833.1:c.3700+21A>C	ENSP00000506852.1:n.3700+21A>C
ENST00000683994.1:c.3709+21A>C	ENSP00000507181.1:n.3709+21A>C
ENST00000684290.1:c.*1245+21A>C	ENSP00000507243.1:n.*1245+21A>C
ENST00000684306.1:c.*3622+21A>C	ENSP00000508384.1:n.*3622+21A>C
ENST00000684341.1:n.3729+21A>C
ENST00000684383.1:c.*3347+21A>C	ENSP00000506863.1:n.*3347+21A>C
ENST00000684418.1:n.4890+21A>C
ENST00000684454.1:n.3059+21A>C
ENST00000684619.1:c.*3581+21A>C	ENSP00000508088.1:n.*3581+21A>C
ENST00000684743.1:n.6454+21A>C
ENST00000260665.12:c.3709+21A>C MANE Select	ENSP00000260665.7:n.3709+21A>C
ENST00000260665.11:c.3709+21A>C	ENSP00000260665.7:n.3709+21A>C
ENST00000463456.5:n.2752+21A>C
ENST00000472420.5:n.106+21A>C
ENST00000483489.1:n.183+21A>C
NM_133259.3:c.3709+21A>C	NP_573566.2:n.3709+21A>C
XM_006711915.2:c.3631+21A>C	XP_006711978.1:n.3631+21A>C
XM_011532473.1:c.3709+21A>C	XP_011530775.1:n.3709+21A>C
XM_011532474.1:c.3709+21A>C	XP_011530776.1:n.3709+21A>C
XM_017003117.1:c.3631+21A>C	XP_016858606.1:n.3631+21A>C
XR_002958896.1:n.3751+21A>C
NM_133259.4:c.3709+21A>C MANE Select	NP_573566.2:n.3709+21A>C