Canonical Allele Identifier: CA425910660

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 794185
• ClinVar RCV Id: RCV000977422
• dbSNP Id: rs1317237549
• gnomAD v4: 2-43957425-G-A
• MyVariant Identifiers: chr2:g.44184564G>A (hg19) ; chr2:g.43957425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43957425G>A , CM000664.2:g.43957425G>A	GRCh38
NC_000002.11:g.44184564G>A , CM000664.1:g.44184564G>A	GRCh37
NC_000002.10:g.44038068G>A	NCBI36
NG_008247.1:g.43581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1609C>T	ENSP00000386562.2:p.Leu537=
ENST00000447246.2:c.1609C>T	ENSP00000403637.2:p.Leu537=
ENST00000467058.2:n.338C>T
ENST00000681959.1:n.1223C>T
ENST00000681961.1:n.1629C>T
ENST00000682104.1:c.1483C>T	ENSP00000507716.1:p.Leu495=
ENST00000682303.1:c.*1481C>T	ENSP00000508325.1:n.*1481C>T
ENST00000682308.1:c.1609C>T	ENSP00000507056.1:p.Leu537=
ENST00000682480.1:c.1609C>T	ENSP00000508344.1:p.Leu537=
ENST00000682546.1:c.1609C>T	ENSP00000508188.1:p.Leu537=
ENST00000682585.1:c.1609C>T	ENSP00000506885.1:p.Leu537=
ENST00000682595.1:n.2191C>T
ENST00000682607.1:c.27C>T
ENST00000682779.1:c.1600C>T	ENSP00000507947.1:p.Leu534=
ENST00000682885.1:c.1609C>T	ENSP00000508036.1:p.Leu537=
ENST00000682933.1:n.1683C>T
ENST00000683072.1:n.2191C>T
ENST00000683082.1:n.1627C>T
ENST00000683125.1:c.1609C>T	ENSP00000507939.1:p.Leu537=
ENST00000683213.1:c.1612C>T	ENSP00000507751.1:p.Leu538=
ENST00000683220.1:c.1609C>T	ENSP00000507151.1:p.Leu537=
ENST00000683329.1:n.2412C>T
ENST00000683346.1:c.*1484C>T	ENSP00000507458.1:n.*1484C>T
ENST00000683459.1:n.2196C>T
ENST00000683590.1:c.1609C>T	ENSP00000506820.1:p.Leu537=
ENST00000683623.1:c.1609C>T	ENSP00000507702.1:p.Leu537=
ENST00000683645.1:n.2129C>T
ENST00000683694.1:n.360C>T
ENST00000683796.1:c.*1481C>T	ENSP00000508221.1:n.*1481C>T
ENST00000683802.1:n.4534C>T
ENST00000683833.1:c.1600C>T	ENSP00000506852.1:p.Leu534=
ENST00000683934.1:c.1495C>T
ENST00000683989.1:c.1609C>T	ENSP00000507510.1:p.Leu537=
ENST00000683994.1:c.1609C>T	ENSP00000507181.1:p.Leu537=
ENST00000684290.1:c.1609C>T	ENSP00000507243.1:p.Leu537=
ENST00000684306.1:c.*1522C>T	ENSP00000508384.1:n.*1522C>T
ENST00000684341.1:n.1629C>T
ENST00000684383.1:c.*1247C>T	ENSP00000506863.1:n.*1247C>T
ENST00000684482.1:c.4078C>T
ENST00000684619.1:c.*1481C>T	ENSP00000508088.1:n.*1481C>T
ENST00000684743.1:n.2640C>T
ENST00000260665.12:c.1609C>T MANE Select	ENSP00000260665.7:p.Leu537=
ENST00000260665.11:c.1609C>T	ENSP00000260665.7:p.Leu537=
ENST00000467058.1:n.338C>T
NM_133259.3:c.1609C>T	NP_573566.2:p.Leu537=
XM_006711915.2:c.1531C>T	XP_006711978.1:p.Leu511=
XM_006711916.2:c.1609C>T	XP_006711979.1:p.Leu537=
XM_011532473.1:c.1609C>T	XP_011530775.1:p.Leu537=
XM_011532474.1:c.1609C>T	XP_011530776.1:p.Leu537=
XM_006711916.3:c.1609C>T	XP_006711979.1:p.Leu537=
XM_017003117.1:c.1531C>T	XP_016858606.1:p.Leu511=
XR_002958896.1:n.1651C>T
NM_133259.4:c.1609C>T MANE Select	NP_573566.2:p.Leu537=