Canonical Allele Identifier: CA346664966

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132861T>G (hg19) ; chr2:g.43905722T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905722T>G , CM000664.2:g.43905722T>G	GRCh38
NC_000002.11:g.44132861T>G , CM000664.1:g.44132861T>G	GRCh37
NC_000002.10:g.43986365T>G	NCBI36
NG_008247.1:g.95284A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.413A>C
ENST00000681993.1:n.886A>C
ENST00000682295.1:c.489A>C	ENSP00000507499.1:n.489A>C
ENST00000682303.1:c.*3120A>C	ENSP00000508325.1:n.*3120A>C
ENST00000682308.1:c.3334A>C	ENSP00000507056.1:p.Ile1112Leu
ENST00000682480.1:c.3352A>C	ENSP00000508344.1:p.Ile1118Leu
ENST00000682546.1:c.3331A>C	ENSP00000508188.1:p.Ile1111Leu
ENST00000682585.1:c.3334A>C	ENSP00000506885.1:p.Ile1112Leu
ENST00000682595.1:n.3918A>C
ENST00000682607.1:c.1752A>C
ENST00000682612.1:c.186A>C
ENST00000682779.1:c.3325A>C	ENSP00000507947.1:p.Ile1109Leu
ENST00000682845.1:n.2436A>C
ENST00000682885.1:c.3289A>C	ENSP00000508036.1:p.Ile1097Leu
ENST00000682933.1:n.3408A>C
ENST00000683002.1:c.186A>C
ENST00000683072.1:n.3918A>C
ENST00000683080.1:n.953A>C
ENST00000683125.1:c.3442A>C	ENSP00000507939.1:p.Ile1148Leu
ENST00000683213.1:c.3337A>C	ENSP00000507751.1:p.Ile1113Leu
ENST00000683220.1:c.3364A>C	ENSP00000507151.1:p.Ile1122Leu
ENST00000683329.1:n.4137A>C
ENST00000683346.1:c.*3209A>C	ENSP00000507458.1:n.*3209A>C
ENST00000683409.1:n.1941A>C
ENST00000683459.1:n.3921A>C
ENST00000683528.1:c.186A>C
ENST00000683590.1:c.3082A>C	ENSP00000506820.1:p.Ile1028Leu
ENST00000683623.1:c.3241A>C	ENSP00000507702.1:p.Ile1081Leu
ENST00000683645.1:n.3885A>C
ENST00000683796.1:c.*3206A>C	ENSP00000508221.1:n.*3206A>C
ENST00000683802.1:n.6259A>C
ENST00000683833.1:c.3325A>C	ENSP00000506852.1:p.Ile1109Leu
ENST00000683994.1:c.3334A>C	ENSP00000507181.1:p.Ile1112Leu
ENST00000684290.1:c.*870A>C	ENSP00000507243.1:n.*870A>C
ENST00000684306.1:c.*3247A>C	ENSP00000508384.1:n.*3247A>C
ENST00000684341.1:n.3354A>C
ENST00000684383.1:c.*2972A>C	ENSP00000506863.1:n.*2972A>C
ENST00000684418.1:n.4515A>C
ENST00000684454.1:n.2684A>C
ENST00000684619.1:c.*3206A>C	ENSP00000508088.1:n.*3206A>C
ENST00000684743.1:n.4365A>C
ENST00000260665.12:c.3334A>C MANE Select	ENSP00000260665.7:p.Ile1112Leu
ENST00000260665.11:c.3334A>C	ENSP00000260665.7:p.Ile1112Leu
NM_133259.3:c.3334A>C	NP_573566.2:p.Ile1112Leu
XM_006711915.2:c.3256A>C	XP_006711978.1:p.Ile1086Leu
XM_011532473.1:c.3334A>C	XP_011530775.1:p.Ile1112Leu
XM_011532474.1:c.3334A>C	XP_011530776.1:p.Ile1112Leu
XM_017003117.1:c.3256A>C	XP_016858606.1:p.Ile1086Leu
XR_002958896.1:n.3376A>C
NM_133259.4:c.3334A>C MANE Select	NP_573566.2:p.Ile1112Leu