Canonical Allele Identifier: CA1638539

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1099794
• ClinVar RCV Id: RCV001422199
• dbSNP Id: rs749148902
• ExAC: 2:44172541 T / C
• gnomAD v2: 2-44172541-T-C
• gnomAD v3: 2-43945402-T-C
• gnomAD v4: 2-43945402-T-C
• MyVariant Identifiers: chr2:g.44172541T>C (hg19) ; chr2:g.43945402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945402T>C , CM000664.2:g.43945402T>C	GRCh38
NC_000002.11:g.44172541T>C , CM000664.1:g.44172541T>C	GRCh37
NC_000002.10:g.44026045T>C	NCBI36
NG_008247.1:g.55604A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2226A>G	ENSP00000386562.2:p.Ser742=
ENST00000447246.2:c.2226A>G	ENSP00000403637.2:p.Ser742=
ENST00000681961.1:n.2246A>G
ENST00000682104.1:c.2100A>G	ENSP00000507716.1:p.Ser700=
ENST00000682303.1:c.*2082+711A>G	ENSP00000508325.1:n.*2082+711A>G
ENST00000682308.1:c.2226A>G	ENSP00000507056.1:p.Ser742=
ENST00000682480.1:c.2226A>G	ENSP00000508344.1:p.Ser742=
ENST00000682546.1:c.2223A>G	ENSP00000508188.1:p.Ser741=
ENST00000682585.1:c.2226A>G	ENSP00000506885.1:p.Ser742=
ENST00000682595.1:n.2808A>G
ENST00000682607.1:c.644A>G
ENST00000682779.1:c.2217A>G	ENSP00000507947.1:p.Ser739=
ENST00000682885.1:c.2181A>G	ENSP00000508036.1:p.Ser727=
ENST00000682933.1:n.2300A>G
ENST00000683072.1:n.2808A>G
ENST00000683125.1:c.2226A>G	ENSP00000507939.1:p.Ser742=
ENST00000683213.1:c.2229A>G	ENSP00000507751.1:p.Ser743=
ENST00000683220.1:c.2256A>G	ENSP00000507151.1:p.Ser752=
ENST00000683329.1:n.3029A>G
ENST00000683346.1:c.*2101A>G	ENSP00000507458.1:n.*2101A>G
ENST00000683459.1:n.2813A>G
ENST00000683590.1:c.2226A>G	ENSP00000506820.1:p.Ser742=
ENST00000683623.1:c.2226A>G	ENSP00000507702.1:p.Ser742=
ENST00000683645.1:n.2777A>G
ENST00000683694.1:n.977A>G
ENST00000683796.1:c.*2098A>G	ENSP00000508221.1:n.*2098A>G
ENST00000683802.1:n.5151A>G
ENST00000683833.1:c.2217A>G	ENSP00000506852.1:p.Ser739=
ENST00000683934.1:c.2112A>G
ENST00000683989.1:c.2226A>G	ENSP00000507510.1:p.Ser742=
ENST00000683994.1:c.2226A>G	ENSP00000507181.1:p.Ser742=
ENST00000684290.1:c.2210+711A>G	ENSP00000507243.1:n.2210+711A>G
ENST00000684306.1:c.*2139A>G	ENSP00000508384.1:n.*2139A>G
ENST00000684341.1:n.2246A>G
ENST00000684383.1:c.*1864A>G	ENSP00000506863.1:n.*1864A>G
ENST00000684619.1:c.*2098A>G	ENSP00000508088.1:n.*2098A>G
ENST00000684743.1:n.3257A>G
ENST00000260665.12:c.2226A>G MANE Select	ENSP00000260665.7:p.Ser742=
ENST00000260665.11:c.2226A>G	ENSP00000260665.7:p.Ser742=
NM_133259.3:c.2226A>G	NP_573566.2:p.Ser742=
XM_006711915.2:c.2148A>G	XP_006711978.1:p.Ser716=
XM_006711916.2:c.2226A>G	XP_006711979.1:p.Ser742=
XM_011532473.1:c.2226A>G	XP_011530775.1:p.Ser742=
XM_011532474.1:c.2226A>G	XP_011530776.1:p.Ser742=
XM_006711916.3:c.2226A>G	XP_006711979.1:p.Ser742=
XM_017003117.1:c.2148A>G	XP_016858606.1:p.Ser716=
XR_002958896.1:n.2268A>G
NM_133259.4:c.2226A>G MANE Select	NP_573566.2:p.Ser742=