Canonical Allele Identifier: CA346668691

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145535T>G (hg19) ; chr2:g.43918396T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918396T>G , CM000664.2:g.43918396T>G	GRCh38
NC_000002.11:g.44145535T>G , CM000664.1:g.44145535T>G	GRCh37
NC_000002.10:g.43999039T>G	NCBI36
NG_008247.1:g.82610A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.451A>C
ENST00000682295.1:c.163A>C	ENSP00000507499.1:p.Ile55Leu
ENST00000682303.1:c.*2685A>C	ENSP00000508325.1:n.*2685A>C
ENST00000682308.1:c.2899A>C	ENSP00000507056.1:p.Ile967Leu
ENST00000682480.1:c.2899A>C	ENSP00000508344.1:p.Ile967Leu
ENST00000682546.1:c.2896A>C	ENSP00000508188.1:p.Ile966Leu
ENST00000682585.1:c.2899A>C	ENSP00000506885.1:p.Ile967Leu
ENST00000682595.1:n.3483A>C
ENST00000682607.1:c.1317A>C
ENST00000682779.1:c.2890A>C	ENSP00000507947.1:p.Ile964Leu
ENST00000682845.1:n.2001A>C
ENST00000682885.1:c.2854A>C	ENSP00000508036.1:p.Ile952Leu
ENST00000682933.1:n.2973A>C
ENST00000683072.1:n.3483A>C
ENST00000683080.1:n.518A>C
ENST00000683125.1:c.3007A>C	ENSP00000507939.1:p.Ile1003Leu
ENST00000683213.1:c.2902A>C	ENSP00000507751.1:p.Ile968Leu
ENST00000683220.1:c.2929A>C	ENSP00000507151.1:p.Ile977Leu
ENST00000683236.1:c.229A>C	ENSP00000506891.1:n.229A>C
ENST00000683329.1:n.3702A>C
ENST00000683346.1:c.*2774A>C	ENSP00000507458.1:n.*2774A>C
ENST00000683409.1:n.1506A>C
ENST00000683459.1:n.3486A>C
ENST00000683590.1:c.2897-5838A>C	ENSP00000506820.1:n.2897-5838A>C
ENST00000683623.1:c.2806A>C	ENSP00000507702.1:p.Ile936Leu
ENST00000683645.1:n.3450A>C
ENST00000683796.1:c.*2771A>C	ENSP00000508221.1:n.*2771A>C
ENST00000683802.1:n.5824A>C
ENST00000683833.1:c.2890A>C	ENSP00000506852.1:p.Ile964Leu
ENST00000683994.1:c.2899A>C	ENSP00000507181.1:p.Ile967Leu
ENST00000684290.1:c.*435A>C	ENSP00000507243.1:n.*435A>C
ENST00000684306.1:c.*2812A>C	ENSP00000508384.1:n.*2812A>C
ENST00000684341.1:n.2919A>C
ENST00000684383.1:c.*2537A>C	ENSP00000506863.1:n.*2537A>C
ENST00000684619.1:c.*2771A>C	ENSP00000508088.1:n.*2771A>C
ENST00000684705.1:n.20A>C
ENST00000684743.1:n.3930A>C
ENST00000260665.12:c.2899A>C MANE Select	ENSP00000260665.7:p.Ile967Leu
ENST00000260665.11:c.2899A>C	ENSP00000260665.7:p.Ile967Leu
NM_133259.3:c.2899A>C	NP_573566.2:p.Ile967Leu
XM_006711915.2:c.2821A>C	XP_006711978.1:p.Ile941Leu
XM_006711916.2:c.2899A>C	XP_006711979.1:p.Ile967Leu
XM_011532473.1:c.2899A>C	XP_011530775.1:p.Ile967Leu
XM_011532474.1:c.2899A>C	XP_011530776.1:p.Ile967Leu
XM_006711916.3:c.2899A>C	XP_006711979.1:p.Ile967Leu
XM_017003117.1:c.2821A>C	XP_016858606.1:p.Ile941Leu
XR_002958896.1:n.2941A>C
NM_133259.4:c.2899A>C MANE Select	NP_573566.2:p.Ile967Leu