Canonical Allele Identifier: CA46470579

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2179705
• ClinVar RCV Id: RCV002599274
• dbSNP Id: rs373716781
• gnomAD v2: 2-44184566-G-A
• gnomAD v4: 2-43957427-G-A
• MyVariant Identifiers: chr2:g.44184566G>A (hg19) ; chr2:g.43957427G>A (hg38)
• PubMed: PMID:25363760

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43957427G>A , CM000664.2:g.43957427G>A	GRCh38
NC_000002.11:g.44184566G>A , CM000664.1:g.44184566G>A	GRCh37
NC_000002.10:g.44038070G>A	NCBI36
NG_008247.1:g.43579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1607C>T	ENSP00000386562.2:p.Ser536Leu
ENST00000447246.2:c.1607C>T	ENSP00000403637.2:p.Ser536Leu
ENST00000467058.2:n.336C>T
ENST00000681959.1:n.1221C>T
ENST00000681961.1:n.1627C>T
ENST00000682104.1:c.1481C>T	ENSP00000507716.1:p.Ser494Leu
ENST00000682303.1:c.*1479C>T	ENSP00000508325.1:n.*1479C>T
ENST00000682308.1:c.1607C>T	ENSP00000507056.1:p.Ser536Leu
ENST00000682480.1:c.1607C>T	ENSP00000508344.1:p.Ser536Leu
ENST00000682546.1:c.1607C>T	ENSP00000508188.1:p.Ser536Leu
ENST00000682585.1:c.1607C>T	ENSP00000506885.1:p.Ser536Leu
ENST00000682595.1:n.2189C>T
ENST00000682607.1:c.25C>T
ENST00000682779.1:c.1598C>T	ENSP00000507947.1:p.Ser533Leu
ENST00000682885.1:c.1607C>T	ENSP00000508036.1:p.Ser536Leu
ENST00000682933.1:n.1681C>T
ENST00000683072.1:n.2189C>T
ENST00000683082.1:n.1625C>T
ENST00000683125.1:c.1607C>T	ENSP00000507939.1:p.Ser536Leu
ENST00000683213.1:c.1610C>T	ENSP00000507751.1:p.Ser537Leu
ENST00000683220.1:c.1607C>T	ENSP00000507151.1:p.Ser536Leu
ENST00000683329.1:n.2410C>T
ENST00000683346.1:c.*1482C>T	ENSP00000507458.1:n.*1482C>T
ENST00000683459.1:n.2194C>T
ENST00000683590.1:c.1607C>T	ENSP00000506820.1:p.Ser536Leu
ENST00000683623.1:c.1607C>T	ENSP00000507702.1:p.Ser536Leu
ENST00000683645.1:n.2127C>T
ENST00000683694.1:n.358C>T
ENST00000683796.1:c.*1479C>T	ENSP00000508221.1:n.*1479C>T
ENST00000683802.1:n.4532C>T
ENST00000683833.1:c.1598C>T	ENSP00000506852.1:p.Ser533Leu
ENST00000683934.1:c.1493C>T
ENST00000683989.1:c.1607C>T	ENSP00000507510.1:p.Ser536Leu
ENST00000683994.1:c.1607C>T	ENSP00000507181.1:p.Ser536Leu
ENST00000684290.1:c.1607C>T	ENSP00000507243.1:p.Ser536Leu
ENST00000684306.1:c.*1520C>T	ENSP00000508384.1:n.*1520C>T
ENST00000684341.1:n.1627C>T
ENST00000684383.1:c.*1245C>T	ENSP00000506863.1:n.*1245C>T
ENST00000684482.1:c.4076C>T
ENST00000684619.1:c.*1479C>T	ENSP00000508088.1:n.*1479C>T
ENST00000684743.1:n.2638C>T
ENST00000260665.12:c.1607C>T MANE Select	ENSP00000260665.7:p.Ser536Leu
ENST00000260665.11:c.1607C>T	ENSP00000260665.7:p.Ser536Leu
ENST00000467058.1:n.336C>T
NM_133259.3:c.1607C>T	NP_573566.2:p.Ser536Leu
XM_006711915.2:c.1529C>T	XP_006711978.1:p.Ser510Leu
XM_006711916.2:c.1607C>T	XP_006711979.1:p.Ser536Leu
XM_011532473.1:c.1607C>T	XP_011530775.1:p.Ser536Leu
XM_011532474.1:c.1607C>T	XP_011530776.1:p.Ser536Leu
XM_006711916.3:c.1607C>T	XP_006711979.1:p.Ser536Leu
XM_017003117.1:c.1529C>T	XP_016858606.1:p.Ser510Leu
XR_002958896.1:n.1649C>T
NM_133259.4:c.1607C>T MANE Select	NP_573566.2:p.Ser536Leu