Canonical Allele Identifier: CA346664973

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132863A>G (hg19) ; chr2:g.43905724A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905724A>G , CM000664.2:g.43905724A>G	GRCh38
NC_000002.11:g.44132863A>G , CM000664.1:g.44132863A>G	GRCh37
NC_000002.10:g.43986367A>G	NCBI36
NG_008247.1:g.95282T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.411T>C
ENST00000681993.1:n.884T>C
ENST00000682295.1:c.487T>C	ENSP00000507499.1:n.487T>C
ENST00000682303.1:c.*3118T>C	ENSP00000508325.1:n.*3118T>C
ENST00000682308.1:c.3332T>C	ENSP00000507056.1:p.Ile1111Thr
ENST00000682480.1:c.3350T>C	ENSP00000508344.1:p.Ile1117Thr
ENST00000682546.1:c.3329T>C	ENSP00000508188.1:p.Ile1110Thr
ENST00000682585.1:c.3332T>C	ENSP00000506885.1:p.Ile1111Thr
ENST00000682595.1:n.3916T>C
ENST00000682607.1:c.1750T>C
ENST00000682612.1:c.184T>C
ENST00000682779.1:c.3323T>C	ENSP00000507947.1:p.Ile1108Thr
ENST00000682845.1:n.2434T>C
ENST00000682885.1:c.3287T>C	ENSP00000508036.1:p.Ile1096Thr
ENST00000682933.1:n.3406T>C
ENST00000683002.1:c.184T>C
ENST00000683072.1:n.3916T>C
ENST00000683080.1:n.951T>C
ENST00000683125.1:c.3440T>C	ENSP00000507939.1:p.Ile1147Thr
ENST00000683213.1:c.3335T>C	ENSP00000507751.1:p.Ile1112Thr
ENST00000683220.1:c.3362T>C	ENSP00000507151.1:p.Ile1121Thr
ENST00000683329.1:n.4135T>C
ENST00000683346.1:c.*3207T>C	ENSP00000507458.1:n.*3207T>C
ENST00000683409.1:n.1939T>C
ENST00000683459.1:n.3919T>C
ENST00000683528.1:c.184T>C
ENST00000683590.1:c.3080T>C	ENSP00000506820.1:p.Ile1027Thr
ENST00000683623.1:c.3239T>C	ENSP00000507702.1:p.Ile1080Thr
ENST00000683645.1:n.3883T>C
ENST00000683796.1:c.*3204T>C	ENSP00000508221.1:n.*3204T>C
ENST00000683802.1:n.6257T>C
ENST00000683833.1:c.3323T>C	ENSP00000506852.1:p.Ile1108Thr
ENST00000683994.1:c.3332T>C	ENSP00000507181.1:p.Ile1111Thr
ENST00000684290.1:c.*868T>C	ENSP00000507243.1:n.*868T>C
ENST00000684306.1:c.*3245T>C	ENSP00000508384.1:n.*3245T>C
ENST00000684341.1:n.3352T>C
ENST00000684383.1:c.*2970T>C	ENSP00000506863.1:n.*2970T>C
ENST00000684418.1:n.4513T>C
ENST00000684454.1:n.2682T>C
ENST00000684619.1:c.*3204T>C	ENSP00000508088.1:n.*3204T>C
ENST00000684743.1:n.4363T>C
ENST00000260665.12:c.3332T>C MANE Select	ENSP00000260665.7:p.Ile1111Thr
ENST00000260665.11:c.3332T>C	ENSP00000260665.7:p.Ile1111Thr
NM_133259.3:c.3332T>C	NP_573566.2:p.Ile1111Thr
XM_006711915.2:c.3254T>C	XP_006711978.1:p.Ile1085Thr
XM_011532473.1:c.3332T>C	XP_011530775.1:p.Ile1111Thr
XM_011532474.1:c.3332T>C	XP_011530776.1:p.Ile1111Thr
XM_017003117.1:c.3254T>C	XP_016858606.1:p.Ile1085Thr
XR_002958896.1:n.3374T>C
NM_133259.4:c.3332T>C MANE Select	NP_573566.2:p.Ile1111Thr