Canonical Allele Identifier: CA1638085

Gene: LRPPRC

Linked Data

• dbSNP Id: rs753677256
• ExAC: 2:44132829 A / G
• gnomAD v2: 2-44132829-A-G
• gnomAD v4: 2-43905690-A-G
• MyVariant Identifiers: chr2:g.44132829A>G (hg19) ; chr2:g.43905690A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905690A>G , CM000664.2:g.43905690A>G	GRCh38
NC_000002.11:g.44132829A>G , CM000664.1:g.44132829A>G	GRCh37
NC_000002.10:g.43986333A>G	NCBI36
NG_008247.1:g.95316T>C

Transcript Alleles

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