Canonical Allele Identifier: CA346668689

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145534A>C (hg19) ; chr2:g.43918395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918395A>C , CM000664.2:g.43918395A>C	GRCh38
NC_000002.11:g.44145534A>C , CM000664.1:g.44145534A>C	GRCh37
NC_000002.10:g.43999038A>C	NCBI36
NG_008247.1:g.82611T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.452T>G
ENST00000682295.1:c.164T>G	ENSP00000507499.1:p.Ile55Arg
ENST00000682303.1:c.*2686T>G	ENSP00000508325.1:n.*2686T>G
ENST00000682308.1:c.2900T>G	ENSP00000507056.1:p.Ile967Arg
ENST00000682480.1:c.2900T>G	ENSP00000508344.1:p.Ile967Arg
ENST00000682546.1:c.2897T>G	ENSP00000508188.1:p.Ile966Arg
ENST00000682585.1:c.2900T>G	ENSP00000506885.1:p.Ile967Arg
ENST00000682595.1:n.3484T>G
ENST00000682607.1:c.1318T>G
ENST00000682779.1:c.2891T>G	ENSP00000507947.1:p.Ile964Arg
ENST00000682845.1:n.2002T>G
ENST00000682885.1:c.2855T>G	ENSP00000508036.1:p.Ile952Arg
ENST00000682933.1:n.2974T>G
ENST00000683072.1:n.3484T>G
ENST00000683080.1:n.519T>G
ENST00000683125.1:c.3008T>G	ENSP00000507939.1:p.Ile1003Arg
ENST00000683213.1:c.2903T>G	ENSP00000507751.1:p.Ile968Arg
ENST00000683220.1:c.2930T>G	ENSP00000507151.1:p.Ile977Arg
ENST00000683236.1:c.230T>G	ENSP00000506891.1:n.230T>G
ENST00000683329.1:n.3703T>G
ENST00000683346.1:c.*2775T>G	ENSP00000507458.1:n.*2775T>G
ENST00000683409.1:n.1507T>G
ENST00000683459.1:n.3487T>G
ENST00000683590.1:c.2897-5837T>G	ENSP00000506820.1:n.2897-5837T>G
ENST00000683623.1:c.2807T>G	ENSP00000507702.1:p.Ile936Arg
ENST00000683645.1:n.3451T>G
ENST00000683796.1:c.*2772T>G	ENSP00000508221.1:n.*2772T>G
ENST00000683802.1:n.5825T>G
ENST00000683833.1:c.2891T>G	ENSP00000506852.1:p.Ile964Arg
ENST00000683994.1:c.2900T>G	ENSP00000507181.1:p.Ile967Arg
ENST00000684290.1:c.*436T>G	ENSP00000507243.1:n.*436T>G
ENST00000684306.1:c.*2813T>G	ENSP00000508384.1:n.*2813T>G
ENST00000684341.1:n.2920T>G
ENST00000684383.1:c.*2538T>G	ENSP00000506863.1:n.*2538T>G
ENST00000684619.1:c.*2772T>G	ENSP00000508088.1:n.*2772T>G
ENST00000684705.1:n.21T>G
ENST00000684743.1:n.3931T>G
ENST00000260665.12:c.2900T>G MANE Select	ENSP00000260665.7:p.Ile967Arg
ENST00000260665.11:c.2900T>G	ENSP00000260665.7:p.Ile967Arg
NM_133259.3:c.2900T>G	NP_573566.2:p.Ile967Arg
XM_006711915.2:c.2822T>G	XP_006711978.1:p.Ile941Arg
XM_006711916.2:c.2900T>G	XP_006711979.1:p.Ile967Arg
XM_011532473.1:c.2900T>G	XP_011530775.1:p.Ile967Arg
XM_011532474.1:c.2900T>G	XP_011530776.1:p.Ile967Arg
XM_006711916.3:c.2900T>G	XP_006711979.1:p.Ile967Arg
XM_017003117.1:c.2822T>G	XP_016858606.1:p.Ile941Arg
XR_002958896.1:n.2942T>G
NM_133259.4:c.2900T>G MANE Select	NP_573566.2:p.Ile967Arg