Canonical Allele Identifier: CA1638261

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1934760
• ClinVar RCV Id: RCV002622715
• dbSNP Id: rs771414283
• ExAC: 2:44145527 A / C
• gnomAD v2: 2-44145527-A-C
• gnomAD v3: 2-43918388-A-C
• gnomAD v4: 2-43918388-A-C
• MyVariant Identifiers: chr2:g.44145527A>C (hg19) ; chr2:g.43918388A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918388A>C , CM000664.2:g.43918388A>C	GRCh38
NC_000002.11:g.44145527A>C , CM000664.1:g.44145527A>C	GRCh37
NC_000002.10:g.43999031A>C	NCBI36
NG_008247.1:g.82618T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.459T>G
ENST00000682295.1:c.171T>G	ENSP00000507499.1:p.Gly57=
ENST00000682303.1:c.*2693T>G	ENSP00000508325.1:n.*2693T>G
ENST00000682308.1:c.2907T>G	ENSP00000507056.1:p.Gly969=
ENST00000682480.1:c.2907T>G	ENSP00000508344.1:p.Gly969=
ENST00000682546.1:c.2904T>G	ENSP00000508188.1:p.Gly968=
ENST00000682585.1:c.2907T>G	ENSP00000506885.1:p.Gly969=
ENST00000682595.1:n.3491T>G
ENST00000682607.1:c.1325T>G
ENST00000682779.1:c.2898T>G	ENSP00000507947.1:p.Gly966=
ENST00000682845.1:n.2009T>G
ENST00000682885.1:c.2862T>G	ENSP00000508036.1:p.Gly954=
ENST00000682933.1:n.2981T>G
ENST00000683072.1:n.3491T>G
ENST00000683080.1:n.526T>G
ENST00000683125.1:c.3015T>G	ENSP00000507939.1:p.Gly1005=
ENST00000683213.1:c.2910T>G	ENSP00000507751.1:p.Gly970=
ENST00000683220.1:c.2937T>G	ENSP00000507151.1:p.Gly979=
ENST00000683236.1:c.237T>G	ENSP00000506891.1:n.237T>G
ENST00000683329.1:n.3710T>G
ENST00000683346.1:c.*2782T>G	ENSP00000507458.1:n.*2782T>G
ENST00000683409.1:n.1514T>G
ENST00000683459.1:n.3494T>G
ENST00000683590.1:c.2897-5830T>G	ENSP00000506820.1:n.2897-5830T>G
ENST00000683623.1:c.2814T>G	ENSP00000507702.1:p.Gly938=
ENST00000683645.1:n.3458T>G
ENST00000683796.1:c.*2779T>G	ENSP00000508221.1:n.*2779T>G
ENST00000683802.1:n.5832T>G
ENST00000683833.1:c.2898T>G	ENSP00000506852.1:p.Gly966=
ENST00000683994.1:c.2907T>G	ENSP00000507181.1:p.Gly969=
ENST00000684290.1:c.*443T>G	ENSP00000507243.1:n.*443T>G
ENST00000684306.1:c.*2820T>G	ENSP00000508384.1:n.*2820T>G
ENST00000684341.1:n.2927T>G
ENST00000684383.1:c.*2545T>G	ENSP00000506863.1:n.*2545T>G
ENST00000684619.1:c.*2779T>G	ENSP00000508088.1:n.*2779T>G
ENST00000684705.1:n.28T>G
ENST00000684743.1:n.3938T>G
ENST00000260665.12:c.2907T>G MANE Select	ENSP00000260665.7:p.Gly969=
ENST00000260665.11:c.2907T>G	ENSP00000260665.7:p.Gly969=
NM_133259.3:c.2907T>G	NP_573566.2:p.Gly969=
XM_006711915.2:c.2829T>G	XP_006711978.1:p.Gly943=
XM_006711916.2:c.2907T>G	XP_006711979.1:p.Gly969=
XM_011532473.1:c.2907T>G	XP_011530775.1:p.Gly969=
XM_011532474.1:c.2907T>G	XP_011530776.1:p.Gly969=
XM_006711916.3:c.2907T>G	XP_006711979.1:p.Gly969=
XM_017003117.1:c.2829T>G	XP_016858606.1:p.Gly943=
XR_002958896.1:n.2949T>G
NM_133259.4:c.2907T>G MANE Select	NP_573566.2:p.Gly969=