Canonical Allele Identifier: CA346664959

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132860A>G (hg19) ; chr2:g.43905721A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905721A>G , CM000664.2:g.43905721A>G	GRCh38
NC_000002.11:g.44132860A>G , CM000664.1:g.44132860A>G	GRCh37
NC_000002.10:g.43986364A>G	NCBI36
NG_008247.1:g.95285T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.414T>C
ENST00000681993.1:n.887T>C
ENST00000682295.1:c.490T>C	ENSP00000507499.1:n.490T>C
ENST00000682303.1:c.*3121T>C	ENSP00000508325.1:n.*3121T>C
ENST00000682308.1:c.3335T>C	ENSP00000507056.1:p.Ile1112Thr
ENST00000682480.1:c.3353T>C	ENSP00000508344.1:p.Ile1118Thr
ENST00000682546.1:c.3332T>C	ENSP00000508188.1:p.Ile1111Thr
ENST00000682585.1:c.3335T>C	ENSP00000506885.1:p.Ile1112Thr
ENST00000682595.1:n.3919T>C
ENST00000682607.1:c.1753T>C
ENST00000682612.1:c.187T>C
ENST00000682779.1:c.3326T>C	ENSP00000507947.1:p.Ile1109Thr
ENST00000682845.1:n.2437T>C
ENST00000682885.1:c.3290T>C	ENSP00000508036.1:p.Ile1097Thr
ENST00000682933.1:n.3409T>C
ENST00000683002.1:c.187T>C
ENST00000683072.1:n.3919T>C
ENST00000683080.1:n.954T>C
ENST00000683125.1:c.3443T>C	ENSP00000507939.1:p.Ile1148Thr
ENST00000683213.1:c.3338T>C	ENSP00000507751.1:p.Ile1113Thr
ENST00000683220.1:c.3365T>C	ENSP00000507151.1:p.Ile1122Thr
ENST00000683329.1:n.4138T>C
ENST00000683346.1:c.*3210T>C	ENSP00000507458.1:n.*3210T>C
ENST00000683409.1:n.1942T>C
ENST00000683459.1:n.3922T>C
ENST00000683528.1:c.187T>C
ENST00000683590.1:c.3083T>C	ENSP00000506820.1:p.Ile1028Thr
ENST00000683623.1:c.3242T>C	ENSP00000507702.1:p.Ile1081Thr
ENST00000683645.1:n.3886T>C
ENST00000683796.1:c.*3207T>C	ENSP00000508221.1:n.*3207T>C
ENST00000683802.1:n.6260T>C
ENST00000683833.1:c.3326T>C	ENSP00000506852.1:p.Ile1109Thr
ENST00000683994.1:c.3335T>C	ENSP00000507181.1:p.Ile1112Thr
ENST00000684290.1:c.*871T>C	ENSP00000507243.1:n.*871T>C
ENST00000684306.1:c.*3248T>C	ENSP00000508384.1:n.*3248T>C
ENST00000684341.1:n.3355T>C
ENST00000684383.1:c.*2973T>C	ENSP00000506863.1:n.*2973T>C
ENST00000684418.1:n.4516T>C
ENST00000684454.1:n.2685T>C
ENST00000684619.1:c.*3207T>C	ENSP00000508088.1:n.*3207T>C
ENST00000684743.1:n.4366T>C
ENST00000260665.12:c.3335T>C MANE Select	ENSP00000260665.7:p.Ile1112Thr
ENST00000260665.11:c.3335T>C	ENSP00000260665.7:p.Ile1112Thr
NM_133259.3:c.3335T>C	NP_573566.2:p.Ile1112Thr
XM_006711915.2:c.3257T>C	XP_006711978.1:p.Ile1086Thr
XM_011532473.1:c.3335T>C	XP_011530775.1:p.Ile1112Thr
XM_011532474.1:c.3335T>C	XP_011530776.1:p.Ile1112Thr
XM_017003117.1:c.3257T>C	XP_016858606.1:p.Ile1086Thr
XR_002958896.1:n.3377T>C
NM_133259.4:c.3335T>C MANE Select	NP_573566.2:p.Ile1112Thr