Canonical Allele Identifier: CA346672733

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170908A>C (hg19) ; chr2:g.43943769A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943769A>C , CM000664.2:g.43943769A>C	GRCh38
NC_000002.11:g.44170908A>C , CM000664.1:g.44170908A>C	GRCh37
NC_000002.10:g.44024412A>C	NCBI36
NG_008247.1:g.57237T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2422T>G	ENSP00000386562.2:p.Leu808Val
ENST00000447246.2:c.2422T>G	ENSP00000403637.2:p.Leu808Val
ENST00000681961.1:n.2442T>G
ENST00000682104.1:c.2296T>G	ENSP00000507716.1:p.Leu766Val
ENST00000682303.1:c.*2208T>G	ENSP00000508325.1:n.*2208T>G
ENST00000682308.1:c.2422T>G	ENSP00000507056.1:p.Leu808Val
ENST00000682480.1:c.2422T>G	ENSP00000508344.1:p.Leu808Val
ENST00000682546.1:c.2419T>G	ENSP00000508188.1:p.Leu807Val
ENST00000682585.1:c.2422T>G	ENSP00000506885.1:p.Leu808Val
ENST00000682595.1:n.3004T>G
ENST00000682607.1:c.840T>G
ENST00000682779.1:c.2413T>G	ENSP00000507947.1:p.Leu805Val
ENST00000682845.1:n.1524T>G
ENST00000682885.1:c.2377T>G	ENSP00000508036.1:p.Leu793Val
ENST00000682933.1:n.2496T>G
ENST00000683072.1:n.3004T>G
ENST00000683125.1:c.2422T>G	ENSP00000507939.1:p.Leu808Val
ENST00000683213.1:c.2425T>G	ENSP00000507751.1:p.Leu809Val
ENST00000683220.1:c.2452T>G	ENSP00000507151.1:p.Leu818Val
ENST00000683329.1:n.3225T>G
ENST00000683346.1:c.*2297T>G	ENSP00000507458.1:n.*2297T>G
ENST00000683459.1:n.3009T>G
ENST00000683590.1:c.2422T>G	ENSP00000506820.1:p.Leu808Val
ENST00000683623.1:c.2329T>G	ENSP00000507702.1:p.Leu777Val
ENST00000683645.1:n.2973T>G
ENST00000683694.1:n.1173T>G
ENST00000683796.1:c.*2294T>G	ENSP00000508221.1:n.*2294T>G
ENST00000683802.1:n.5347T>G
ENST00000683833.1:c.2413T>G	ENSP00000506852.1:p.Leu805Val
ENST00000683989.1:c.2422T>G	ENSP00000507510.1:p.Leu808Val
ENST00000683994.1:c.2422T>G	ENSP00000507181.1:p.Leu808Val
ENST00000684290.1:c.*116T>G	ENSP00000507243.1:n.*116T>G
ENST00000684306.1:c.*2335T>G	ENSP00000508384.1:n.*2335T>G
ENST00000684341.1:n.2442T>G
ENST00000684383.1:c.*2060T>G	ENSP00000506863.1:n.*2060T>G
ENST00000684397.1:c.126T>G
ENST00000684619.1:c.*2294T>G	ENSP00000508088.1:n.*2294T>G
ENST00000684743.1:n.3453T>G
ENST00000260665.12:c.2422T>G MANE Select	ENSP00000260665.7:p.Leu808Val
ENST00000260665.11:c.2422T>G	ENSP00000260665.7:p.Leu808Val
NM_133259.3:c.2422T>G	NP_573566.2:p.Leu808Val
XM_006711915.2:c.2344T>G	XP_006711978.1:p.Leu782Val
XM_006711916.2:c.2422T>G	XP_006711979.1:p.Leu808Val
XM_011532473.1:c.2422T>G	XP_011530775.1:p.Leu808Val
XM_011532474.1:c.2422T>G	XP_011530776.1:p.Leu808Val
XM_006711916.3:c.2422T>G	XP_006711979.1:p.Leu808Val
XM_017003117.1:c.2344T>G	XP_016858606.1:p.Leu782Val
XR_002958896.1:n.2464T>G
NM_133259.4:c.2422T>G MANE Select	NP_573566.2:p.Leu808Val