Canonical Allele Identifier: CA346676216

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1345288497
• gnomAD v2: 2-44175329-T-G
• gnomAD v3: 2-43948190-T-G
• gnomAD v4: 2-43948190-T-G
• MyVariant Identifiers: chr2:g.44175329T>G (hg19) ; chr2:g.43948190T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948190T>G , CM000664.2:g.43948190T>G	GRCh38
NC_000002.11:g.44175329T>G , CM000664.1:g.44175329T>G	GRCh37
NC_000002.10:g.44028833T>G	NCBI36
NG_008247.1:g.52816A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1852A>C	ENSP00000386562.2:p.Ile618Leu
ENST00000447246.2:c.1852A>C	ENSP00000403637.2:p.Ile618Leu
ENST00000467058.2:n.581A>C
ENST00000681959.1:n.1466A>C
ENST00000681961.1:n.1872A>C
ENST00000682104.1:c.1726A>C	ENSP00000507716.1:p.Ile576Leu
ENST00000682303.1:c.*1724A>C	ENSP00000508325.1:n.*1724A>C
ENST00000682308.1:c.1852A>C	ENSP00000507056.1:p.Ile618Leu
ENST00000682480.1:c.1852A>C	ENSP00000508344.1:p.Ile618Leu
ENST00000682546.1:c.1849A>C	ENSP00000508188.1:p.Ile617Leu
ENST00000682585.1:c.1852A>C	ENSP00000506885.1:p.Ile618Leu
ENST00000682595.1:n.2434A>C
ENST00000682607.1:c.270A>C
ENST00000682779.1:c.1843A>C	ENSP00000507947.1:p.Ile615Leu
ENST00000682885.1:c.1852A>C	ENSP00000508036.1:p.Ile618Leu
ENST00000682933.1:n.1926A>C
ENST00000683072.1:n.2434A>C
ENST00000683082.1:n.1870A>C
ENST00000683125.1:c.1852A>C	ENSP00000507939.1:p.Ile618Leu
ENST00000683213.1:c.1855A>C	ENSP00000507751.1:p.Ile619Leu
ENST00000683220.1:c.1882A>C	ENSP00000507151.1:p.Ile628Leu
ENST00000683329.1:n.2655A>C
ENST00000683346.1:c.*1727A>C	ENSP00000507458.1:n.*1727A>C
ENST00000683459.1:n.2439A>C
ENST00000683590.1:c.1852A>C	ENSP00000506820.1:p.Ile618Leu
ENST00000683623.1:c.1852A>C	ENSP00000507702.1:p.Ile618Leu
ENST00000683645.1:n.2403A>C
ENST00000683694.1:n.603A>C
ENST00000683796.1:c.*1724A>C	ENSP00000508221.1:n.*1724A>C
ENST00000683802.1:n.4777A>C
ENST00000683833.1:c.1843A>C	ENSP00000506852.1:p.Ile615Leu
ENST00000683934.1:c.1738A>C
ENST00000683989.1:c.1852A>C	ENSP00000507510.1:p.Ile618Leu
ENST00000683994.1:c.1852A>C	ENSP00000507181.1:p.Ile618Leu
ENST00000684290.1:c.1852A>C	ENSP00000507243.1:p.Ile618Leu
ENST00000684306.1:c.*1765A>C	ENSP00000508384.1:n.*1765A>C
ENST00000684341.1:n.1872A>C
ENST00000684383.1:c.*1490A>C	ENSP00000506863.1:n.*1490A>C
ENST00000684482.1:c.4321A>C
ENST00000684619.1:c.*1724A>C	ENSP00000508088.1:n.*1724A>C
ENST00000684743.1:n.2883A>C
ENST00000260665.12:c.1852A>C MANE Select	ENSP00000260665.7:p.Ile618Leu
ENST00000260665.11:c.1852A>C	ENSP00000260665.7:p.Ile618Leu
NM_133259.3:c.1852A>C	NP_573566.2:p.Ile618Leu
XM_006711915.2:c.1774A>C	XP_006711978.1:p.Ile592Leu
XM_006711916.2:c.1852A>C	XP_006711979.1:p.Ile618Leu
XM_011532473.1:c.1852A>C	XP_011530775.1:p.Ile618Leu
XM_011532474.1:c.1852A>C	XP_011530776.1:p.Ile618Leu
XM_006711916.3:c.1852A>C	XP_006711979.1:p.Ile618Leu
XM_017003117.1:c.1774A>C	XP_016858606.1:p.Ile592Leu
XR_002958896.1:n.1894A>C
NM_133259.4:c.1852A>C MANE Select	NP_573566.2:p.Ile618Leu