Canonical Allele Identifier: CA346678671

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 553420
• ClinVar RCV Id: RCV000668867
• dbSNP Id: rs896524026
• gnomAD v4: 2-43960546-G-T
• MyVariant Identifiers: chr2:g.44187685G>T (hg19) ; chr2:g.43960546G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43960546G>T , CM000664.2:g.43960546G>T	GRCh38
NC_000002.11:g.44187685G>T , CM000664.1:g.44187685G>T	GRCh37
NC_000002.10:g.44041189G>T	NCBI36
NG_008247.1:g.40460C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.1577C>A	ENSP00000386562.2:p.Ser526Ter
ENST00000409946.6:c.1577C>A	ENSP00000386234.1:p.Ser526Ter
ENST00000447246.2:c.1577C>A	ENSP00000403637.2:p.Ser526Ter
ENST00000467058.2:n.306C>A
ENST00000681959.1:n.1191C>A
ENST00000681961.1:n.1597C>A
ENST00000682104.1:c.1451C>A	ENSP00000507716.1:p.Ser484Ter
ENST00000682303.1:c.*1449C>A	ENSP00000508325.1:n.*1449C>A
ENST00000682308.1:c.1577C>A	ENSP00000507056.1:p.Ser526Ter
ENST00000682480.1:c.1577C>A	ENSP00000508344.1:p.Ser526Ter
ENST00000682546.1:c.1577C>A	ENSP00000508188.1:p.Ser526Ter
ENST00000682585.1:c.1577C>A	ENSP00000506885.1:p.Ser526Ter
ENST00000682595.1:n.2159C>A
ENST00000682779.1:c.1568C>A	ENSP00000507947.1:p.Ser523Ter
ENST00000682885.1:c.1577C>A	ENSP00000508036.1:p.Ser526Ter
ENST00000683072.1:n.2159C>A
ENST00000683082.1:n.1595C>A
ENST00000683125.1:c.1577C>A	ENSP00000507939.1:p.Ser526Ter
ENST00000683213.1:c.1580C>A	ENSP00000507751.1:p.Ser527Ter
ENST00000683220.1:c.1577C>A	ENSP00000507151.1:p.Ser526Ter
ENST00000683329.1:n.2380C>A
ENST00000683346.1:c.*1452C>A	ENSP00000507458.1:n.*1452C>A
ENST00000683459.1:n.2164C>A
ENST00000683590.1:c.1577C>A	ENSP00000506820.1:p.Ser526Ter
ENST00000683623.1:c.1577C>A	ENSP00000507702.1:p.Ser526Ter
ENST00000683694.1:n.328C>A
ENST00000683796.1:c.*1449C>A	ENSP00000508221.1:n.*1449C>A
ENST00000683802.1:n.1413C>A
ENST00000683833.1:c.1568C>A	ENSP00000506852.1:p.Ser523Ter
ENST00000683934.1:c.1231C>A
ENST00000683989.1:c.1577C>A	ENSP00000507510.1:p.Ser526Ter
ENST00000683994.1:c.1577C>A	ENSP00000507181.1:p.Ser526Ter
ENST00000684290.1:c.1577C>A	ENSP00000507243.1:p.Ser526Ter
ENST00000684306.1:c.*1490C>A	ENSP00000508384.1:n.*1490C>A
ENST00000684341.1:n.1597C>A
ENST00000684383.1:c.*1215C>A	ENSP00000506863.1:n.*1215C>A
ENST00000684482.1:c.1231C>A
ENST00000684619.1:c.*1449C>A	ENSP00000508088.1:n.*1449C>A
ENST00000260665.12:c.1577C>A MANE Select	ENSP00000260665.7:p.Ser526Ter
ENST00000260665.11:c.1577C>A	ENSP00000260665.7:p.Ser526Ter
ENST00000409946.5:c.1577C>A	ENSP00000386234.1:p.Ser526Ter
ENST00000467058.1:n.306C>A
NM_133259.3:c.1577C>A	NP_573566.2:p.Ser526Ter
XM_006711915.2:c.1499C>A	XP_006711978.1:p.Ser500Ter
XM_006711916.2:c.1577C>A	XP_006711979.1:p.Ser526Ter
XM_011532473.1:c.1577C>A	XP_011530775.1:p.Ser526Ter
XM_011532474.1:c.1577C>A	XP_011530776.1:p.Ser526Ter
XM_006711916.3:c.1577C>A	XP_006711979.1:p.Ser526Ter
XM_017003117.1:c.1499C>A	XP_016858606.1:p.Ser500Ter
XR_002958896.1:n.1619C>A
NM_133259.4:c.1577C>A MANE Select	NP_573566.2:p.Ser526Ter