Canonical Allele Identifier: CA346664968

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1385596
• ClinVar RCV Id: RCV001905563
• dbSNP Id: rs2105001262
• MyVariant Identifiers: chr2:g.44132861T>C (hg19) ; chr2:g.43905722T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.413A>G
ENST00000681993.1:n.886A>G
ENST00000682295.1:c.489A>G	ENSP00000507499.1:n.489A>G
ENST00000682303.1:c.*3120A>G	ENSP00000508325.1:n.*3120A>G
ENST00000682308.1:c.3334A>G	ENSP00000507056.1:p.Ile1112Val
ENST00000682480.1:c.3352A>G	ENSP00000508344.1:p.Ile1118Val
ENST00000682546.1:c.3331A>G	ENSP00000508188.1:p.Ile1111Val
ENST00000682585.1:c.3334A>G	ENSP00000506885.1:p.Ile1112Val
ENST00000682595.1:n.3918A>G
ENST00000682607.1:c.1752A>G
ENST00000682612.1:c.186A>G
ENST00000682779.1:c.3325A>G	ENSP00000507947.1:p.Ile1109Val
ENST00000682845.1:n.2436A>G
ENST00000682885.1:c.3289A>G	ENSP00000508036.1:p.Ile1097Val
ENST00000682933.1:n.3408A>G
ENST00000683002.1:c.186A>G
ENST00000683072.1:n.3918A>G
ENST00000683080.1:n.953A>G
ENST00000683125.1:c.3442A>G	ENSP00000507939.1:p.Ile1148Val
ENST00000683213.1:c.3337A>G	ENSP00000507751.1:p.Ile1113Val
ENST00000683220.1:c.3364A>G	ENSP00000507151.1:p.Ile1122Val
ENST00000683329.1:n.4137A>G
ENST00000683346.1:c.*3209A>G	ENSP00000507458.1:n.*3209A>G
ENST00000683409.1:n.1941A>G
ENST00000683459.1:n.3921A>G
ENST00000683528.1:c.186A>G
ENST00000683590.1:c.3082A>G	ENSP00000506820.1:p.Ile1028Val
ENST00000683623.1:c.3241A>G	ENSP00000507702.1:p.Ile1081Val
ENST00000683645.1:n.3885A>G
ENST00000683796.1:c.*3206A>G	ENSP00000508221.1:n.*3206A>G
ENST00000683802.1:n.6259A>G
ENST00000683833.1:c.3325A>G	ENSP00000506852.1:p.Ile1109Val
ENST00000683994.1:c.3334A>G	ENSP00000507181.1:p.Ile1112Val
ENST00000684290.1:c.*870A>G	ENSP00000507243.1:n.*870A>G
ENST00000684306.1:c.*3247A>G	ENSP00000508384.1:n.*3247A>G
ENST00000684341.1:n.3354A>G
ENST00000684383.1:c.*2972A>G	ENSP00000506863.1:n.*2972A>G
ENST00000684418.1:n.4515A>G
ENST00000684454.1:n.2684A>G
ENST00000684619.1:c.*3206A>G	ENSP00000508088.1:n.*3206A>G
ENST00000684743.1:n.4365A>G
ENST00000260665.12:c.3334A>G MANE Select	ENSP00000260665.7:p.Ile1112Val
ENST00000260665.11:c.3334A>G	ENSP00000260665.7:p.Ile1112Val
NM_133259.3:c.3334A>G	NP_573566.2:p.Ile1112Val
XM_006711915.2:c.3256A>G	XP_006711978.1:p.Ile1086Val
XM_011532473.1:c.3334A>G	XP_011530775.1:p.Ile1112Val
XM_011532474.1:c.3334A>G	XP_011530776.1:p.Ile1112Val
XM_017003117.1:c.3256A>G	XP_016858606.1:p.Ile1086Val
XR_002958896.1:n.3376A>G
NM_133259.4:c.3334A>G MANE Select	NP_573566.2:p.Ile1112Val