Canonical Allele Identifier: CA425910638

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1674129
• ClinVar RCV Id: RCV002206440
• dbSNP Id: rs2103649830
• gnomAD v4: 2-43957396-T-C
• COSMIC: COSM1021080
• MyVariant Identifiers: chr2:g.44184535T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43957396T>C , CM000664.2:g.43957396T>C	GRCh38
NC_000002.11:g.44184535T>C , CM000664.1:g.44184535T>C	GRCh37
NC_000002.10:g.44038039T>C	NCBI36
NG_008247.1:g.43610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1638A>G	ENSP00000386562.2:p.Leu546=
ENST00000447246.2:c.1638A>G	ENSP00000403637.2:p.Leu546=
ENST00000467058.2:n.367A>G
ENST00000681959.1:n.1252A>G
ENST00000681961.1:n.1658A>G
ENST00000682104.1:c.1512A>G	ENSP00000507716.1:p.Leu504=
ENST00000682303.1:c.*1510A>G	ENSP00000508325.1:n.*1510A>G
ENST00000682308.1:c.1638A>G	ENSP00000507056.1:p.Leu546=
ENST00000682480.1:c.1638A>G	ENSP00000508344.1:p.Leu546=
ENST00000682546.1:c.1638A>G	ENSP00000508188.1:p.Leu546=
ENST00000682585.1:c.1638A>G	ENSP00000506885.1:p.Leu546=
ENST00000682595.1:n.2220A>G
ENST00000682607.1:c.56A>G
ENST00000682779.1:c.1629A>G	ENSP00000507947.1:p.Leu543=
ENST00000682885.1:c.1638A>G	ENSP00000508036.1:p.Leu546=
ENST00000682933.1:n.1712A>G
ENST00000683072.1:n.2220A>G
ENST00000683082.1:n.1656A>G
ENST00000683125.1:c.1638A>G	ENSP00000507939.1:p.Leu546=
ENST00000683213.1:c.1641A>G	ENSP00000507751.1:p.Leu547=
ENST00000683220.1:c.1638A>G	ENSP00000507151.1:p.Leu546=
ENST00000683329.1:n.2441A>G
ENST00000683346.1:c.*1513A>G	ENSP00000507458.1:n.*1513A>G
ENST00000683459.1:n.2225A>G
ENST00000683590.1:c.1638A>G	ENSP00000506820.1:p.Leu546=
ENST00000683623.1:c.1638A>G	ENSP00000507702.1:p.Leu546=
ENST00000683645.1:n.2158A>G
ENST00000683694.1:n.389A>G
ENST00000683796.1:c.*1510A>G	ENSP00000508221.1:n.*1510A>G
ENST00000683802.1:n.4563A>G
ENST00000683833.1:c.1629A>G	ENSP00000506852.1:p.Leu543=
ENST00000683934.1:c.1524A>G
ENST00000683989.1:c.1638A>G	ENSP00000507510.1:p.Leu546=
ENST00000683994.1:c.1638A>G	ENSP00000507181.1:p.Leu546=
ENST00000684290.1:c.1638A>G	ENSP00000507243.1:p.Leu546=
ENST00000684306.1:c.*1551A>G	ENSP00000508384.1:n.*1551A>G
ENST00000684341.1:n.1658A>G
ENST00000684383.1:c.*1276A>G	ENSP00000506863.1:n.*1276A>G
ENST00000684482.1:c.4107A>G
ENST00000684619.1:c.*1510A>G	ENSP00000508088.1:n.*1510A>G
ENST00000684743.1:n.2669A>G
ENST00000260665.12:c.1638A>G MANE Select	ENSP00000260665.7:p.Leu546=
ENST00000260665.11:c.1638A>G	ENSP00000260665.7:p.Leu546=
ENST00000467058.1:n.367A>G
NM_133259.3:c.1638A>G	NP_573566.2:p.Leu546=
XM_006711915.2:c.1560A>G	XP_006711978.1:p.Leu520=
XM_006711916.2:c.1638A>G	XP_006711979.1:p.Leu546=
XM_011532473.1:c.1638A>G	XP_011530775.1:p.Leu546=
XM_011532474.1:c.1638A>G	XP_011530776.1:p.Leu546=
XM_006711916.3:c.1638A>G	XP_006711979.1:p.Leu546=
XM_017003117.1:c.1560A>G	XP_016858606.1:p.Leu520=
XR_002958896.1:n.1680A>G
NM_133259.4:c.1638A>G MANE Select	NP_573566.2:p.Leu546=