Canonical Allele Identifier: CA346673465

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43943883-T-A
• MyVariant Identifiers: chr2:g.44171022T>A (hg19) ; chr2:g.43943883T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943883T>A , CM000664.2:g.43943883T>A	GRCh38
NC_000002.11:g.44171022T>A , CM000664.1:g.44171022T>A	GRCh37
NC_000002.10:g.44024526T>A	NCBI36
NG_008247.1:g.57123A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2308A>T	ENSP00000386562.2:p.Ile770Phe
ENST00000447246.2:c.2308A>T	ENSP00000403637.2:p.Ile770Phe
ENST00000681961.1:n.2328A>T
ENST00000682104.1:c.2182A>T	ENSP00000507716.1:p.Ile728Phe
ENST00000682303.1:c.*2094A>T	ENSP00000508325.1:n.*2094A>T
ENST00000682308.1:c.2308A>T	ENSP00000507056.1:p.Ile770Phe
ENST00000682480.1:c.2308A>T	ENSP00000508344.1:p.Ile770Phe
ENST00000682546.1:c.2305A>T	ENSP00000508188.1:p.Ile769Phe
ENST00000682585.1:c.2308A>T	ENSP00000506885.1:p.Ile770Phe
ENST00000682595.1:n.2890A>T
ENST00000682607.1:c.726A>T
ENST00000682779.1:c.2299A>T	ENSP00000507947.1:p.Ile767Phe
ENST00000682845.1:n.1410A>T
ENST00000682885.1:c.2263A>T	ENSP00000508036.1:p.Ile755Phe
ENST00000682933.1:n.2382A>T
ENST00000683072.1:n.2890A>T
ENST00000683125.1:c.2308A>T	ENSP00000507939.1:p.Ile770Phe
ENST00000683213.1:c.2311A>T	ENSP00000507751.1:p.Ile771Phe
ENST00000683220.1:c.2338A>T	ENSP00000507151.1:p.Ile780Phe
ENST00000683329.1:n.3111A>T
ENST00000683346.1:c.*2183A>T	ENSP00000507458.1:n.*2183A>T
ENST00000683459.1:n.2895A>T
ENST00000683590.1:c.2308A>T	ENSP00000506820.1:p.Ile770Phe
ENST00000683623.1:c.2297-82A>T	ENSP00000507702.1:n.2297-82A>T
ENST00000683645.1:n.2859A>T
ENST00000683694.1:n.1059A>T
ENST00000683796.1:c.*2180A>T	ENSP00000508221.1:n.*2180A>T
ENST00000683802.1:n.5233A>T
ENST00000683833.1:c.2299A>T	ENSP00000506852.1:p.Ile767Phe
ENST00000683989.1:c.2308A>T	ENSP00000507510.1:p.Ile770Phe
ENST00000683994.1:c.2308A>T	ENSP00000507181.1:p.Ile770Phe
ENST00000684290.1:c.*2A>T	ENSP00000507243.1:n.*2A>T
ENST00000684306.1:c.*2221A>T	ENSP00000508384.1:n.*2221A>T
ENST00000684341.1:n.2328A>T
ENST00000684383.1:c.*1946A>T	ENSP00000506863.1:n.*1946A>T
ENST00000684397.1:c.12A>T
ENST00000684619.1:c.*2180A>T	ENSP00000508088.1:n.*2180A>T
ENST00000684743.1:n.3339A>T
ENST00000260665.12:c.2308A>T MANE Select	ENSP00000260665.7:p.Ile770Phe
ENST00000260665.11:c.2308A>T	ENSP00000260665.7:p.Ile770Phe
NM_133259.3:c.2308A>T	NP_573566.2:p.Ile770Phe
XM_006711915.2:c.2230A>T	XP_006711978.1:p.Ile744Phe
XM_006711916.2:c.2308A>T	XP_006711979.1:p.Ile770Phe
XM_011532473.1:c.2308A>T	XP_011530775.1:p.Ile770Phe
XM_011532474.1:c.2308A>T	XP_011530776.1:p.Ile770Phe
XM_006711916.3:c.2308A>T	XP_006711979.1:p.Ile770Phe
XM_017003117.1:c.2230A>T	XP_016858606.1:p.Ile744Phe
XR_002958896.1:n.2350A>T
NM_133259.4:c.2308A>T MANE Select	NP_573566.2:p.Ile770Phe