Canonical Allele Identifier: CA346668478

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145438A>C (hg19) ; chr2:g.43918299A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918299A>C , CM000664.2:g.43918299A>C	GRCh38
NC_000002.11:g.44145438A>C , CM000664.1:g.44145438A>C	GRCh37
NC_000002.10:g.43998942A>C	NCBI36
NG_008247.1:g.82707T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.548T>G
ENST00000682295.1:c.260T>G	ENSP00000507499.1:p.Ile87Ser
ENST00000682303.1:c.*2782T>G	ENSP00000508325.1:n.*2782T>G
ENST00000682308.1:c.2996T>G	ENSP00000507056.1:p.Ile999Ser
ENST00000682480.1:c.2996T>G	ENSP00000508344.1:p.Ile999Ser
ENST00000682546.1:c.2993T>G	ENSP00000508188.1:p.Ile998Ser
ENST00000682585.1:c.2996T>G	ENSP00000506885.1:p.Ile999Ser
ENST00000682595.1:n.3580T>G
ENST00000682607.1:c.1414T>G
ENST00000682779.1:c.2987T>G	ENSP00000507947.1:p.Ile996Ser
ENST00000682845.1:n.2098T>G
ENST00000682885.1:c.2951T>G	ENSP00000508036.1:p.Ile984Ser
ENST00000682933.1:n.3070T>G
ENST00000683072.1:n.3580T>G
ENST00000683080.1:n.615T>G
ENST00000683125.1:c.3104T>G	ENSP00000507939.1:p.Ile1035Ser
ENST00000683213.1:c.2999T>G	ENSP00000507751.1:p.Ile1000Ser
ENST00000683220.1:c.3026T>G	ENSP00000507151.1:p.Ile1009Ser
ENST00000683236.1:c.326T>G	ENSP00000506891.1:n.326T>G
ENST00000683329.1:n.3799T>G
ENST00000683346.1:c.*2871T>G	ENSP00000507458.1:n.*2871T>G
ENST00000683409.1:n.1603T>G
ENST00000683459.1:n.3583T>G
ENST00000683590.1:c.2897-5741T>G	ENSP00000506820.1:n.2897-5741T>G
ENST00000683623.1:c.2903T>G	ENSP00000507702.1:p.Ile968Ser
ENST00000683645.1:n.3547T>G
ENST00000683796.1:c.*2868T>G	ENSP00000508221.1:n.*2868T>G
ENST00000683802.1:n.5921T>G
ENST00000683833.1:c.2987T>G	ENSP00000506852.1:p.Ile996Ser
ENST00000683994.1:c.2996T>G	ENSP00000507181.1:p.Ile999Ser
ENST00000684290.1:c.*532T>G	ENSP00000507243.1:n.*532T>G
ENST00000684306.1:c.*2909T>G	ENSP00000508384.1:n.*2909T>G
ENST00000684341.1:n.3016T>G
ENST00000684383.1:c.*2634T>G	ENSP00000506863.1:n.*2634T>G
ENST00000684619.1:c.*2868T>G	ENSP00000508088.1:n.*2868T>G
ENST00000684705.1:n.117T>G
ENST00000684743.1:n.4027T>G
ENST00000260665.12:c.2996T>G MANE Select	ENSP00000260665.7:p.Ile999Ser
ENST00000260665.11:c.2996T>G	ENSP00000260665.7:p.Ile999Ser
NM_133259.3:c.2996T>G	NP_573566.2:p.Ile999Ser
XM_006711915.2:c.2918T>G	XP_006711978.1:p.Ile973Ser
XM_006711916.2:c.2996T>G	XP_006711979.1:p.Ile999Ser
XM_011532473.1:c.2996T>G	XP_011530775.1:p.Ile999Ser
XM_011532474.1:c.2996T>G	XP_011530776.1:p.Ile999Ser
XM_006711916.3:c.2996T>G	XP_006711979.1:p.Ile999Ser
XM_017003117.1:c.2918T>G	XP_016858606.1:p.Ile973Ser
XR_002958896.1:n.3038T>G
NM_133259.4:c.2996T>G MANE Select	NP_573566.2:p.Ile999Ser