Canonical Allele Identifier: CA346664823

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1068273
• ClinVar RCV Id: RCV001379775
• dbSNP Id: rs1671044312
• MyVariant Identifiers: chr2:g.44132830C>T (hg19) ; chr2:g.43905691C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905691C>T , CM000664.2:g.43905691C>T	GRCh38
NC_000002.11:g.44132830C>T , CM000664.1:g.44132830C>T	GRCh37
NC_000002.10:g.43986334C>T	NCBI36
NG_008247.1:g.95315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.443+1G>A
ENST00000681993.1:n.916+1G>A
ENST00000682303.1:c.*3150+1G>A	ENSP00000508325.1:n.*3150+1G>A
ENST00000682308.1:c.3364+1G>A	ENSP00000507056.1:n.3364+1G>A
ENST00000682480.1:c.3382+1G>A	ENSP00000508344.1:n.3382+1G>A
ENST00000682546.1:c.3361+1G>A	ENSP00000508188.1:n.3361+1G>A
ENST00000682585.1:c.3364+1G>A	ENSP00000506885.1:n.3364+1G>A
ENST00000682595.1:n.3948+1G>A
ENST00000682607.1:c.1782+1G>A
ENST00000682612.1:c.216+1G>A
ENST00000682779.1:c.3355+1G>A	ENSP00000507947.1:n.3355+1G>A
ENST00000682845.1:n.2466+1G>A
ENST00000682885.1:c.3319+1G>A	ENSP00000508036.1:n.3319+1G>A
ENST00000682933.1:n.3438+1G>A
ENST00000683002.1:c.216+1G>A
ENST00000683072.1:n.3948+1G>A
ENST00000683080.1:n.983+1G>A
ENST00000683125.1:c.3472+1G>A	ENSP00000507939.1:n.3472+1G>A
ENST00000683213.1:c.3367+1G>A	ENSP00000507751.1:n.3367+1G>A
ENST00000683220.1:c.3394+1G>A	ENSP00000507151.1:n.3394+1G>A
ENST00000683329.1:n.4167+1G>A
ENST00000683346.1:c.*3239+1G>A	ENSP00000507458.1:n.*3239+1G>A
ENST00000683409.1:n.1971+1G>A
ENST00000683459.1:n.3951+1G>A
ENST00000683528.1:c.216+1G>A
ENST00000683590.1:c.3112+1G>A	ENSP00000506820.1:n.3112+1G>A
ENST00000683623.1:c.3271+1G>A	ENSP00000507702.1:n.3271+1G>A
ENST00000683645.1:n.3915+1G>A
ENST00000683796.1:c.*3236+1G>A	ENSP00000508221.1:n.*3236+1G>A
ENST00000683802.1:n.6289+1G>A
ENST00000683833.1:c.3355+1G>A	ENSP00000506852.1:n.3355+1G>A
ENST00000683994.1:c.3364+1G>A	ENSP00000507181.1:n.3364+1G>A
ENST00000684290.1:c.*900+1G>A	ENSP00000507243.1:n.*900+1G>A
ENST00000684306.1:c.*3277+1G>A	ENSP00000508384.1:n.*3277+1G>A
ENST00000684341.1:n.3384+1G>A
ENST00000684383.1:c.*3002+1G>A	ENSP00000506863.1:n.*3002+1G>A
ENST00000684418.1:n.4545+1G>A
ENST00000684454.1:n.2714+1G>A
ENST00000684619.1:c.*3236+1G>A	ENSP00000508088.1:n.*3236+1G>A
ENST00000684743.1:n.4395+1G>A
ENST00000260665.12:c.3364+1G>A MANE Select	ENSP00000260665.7:n.3364+1G>A
ENST00000260665.11:c.3364+1G>A	ENSP00000260665.7:n.3364+1G>A
NM_133259.3:c.3364+1G>A	NP_573566.2:n.3364+1G>A
XM_006711915.2:c.3286+1G>A	XP_006711978.1:n.3286+1G>A
XM_011532473.1:c.3364+1G>A	XP_011530775.1:n.3364+1G>A
XM_011532474.1:c.3364+1G>A	XP_011530776.1:n.3364+1G>A
XM_017003117.1:c.3286+1G>A	XP_016858606.1:n.3286+1G>A
XR_002958896.1:n.3406+1G>A
NM_133259.4:c.3364+1G>A MANE Select	NP_573566.2:n.3364+1G>A