Canonical Allele Identifier: CA46434599

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1015163770
• gnomAD v3: 2-43905433-C-T
• gnomAD v4: 2-43905433-C-T
• MyVariant Identifiers: chr2:g.44132572C>T (hg19) ; chr2:g.43905433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905433C>T , CM000664.2:g.43905433C>T	GRCh38
NC_000002.11:g.44132572C>T , CM000664.1:g.44132572C>T	GRCh37
NC_000002.10:g.43986076C>T	NCBI36
NG_008247.1:g.95573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.443+259G>A
ENST00000681993.1:n.916+259G>A
ENST00000682303.1:c.*3150+259G>A	ENSP00000508325.1:n.*3150+259G>A
ENST00000682308.1:c.3364+259G>A	ENSP00000507056.1:n.3364+259G>A
ENST00000682480.1:c.3382+259G>A	ENSP00000508344.1:n.3382+259G>A
ENST00000682546.1:c.3361+259G>A	ENSP00000508188.1:n.3361+259G>A
ENST00000682585.1:c.3364+259G>A	ENSP00000506885.1:n.3364+259G>A
ENST00000682595.1:n.3948+259G>A
ENST00000682607.1:c.1782+259G>A
ENST00000682612.1:c.216+259G>A
ENST00000682779.1:c.3355+259G>A	ENSP00000507947.1:n.3355+259G>A
ENST00000682845.1:n.2466+259G>A
ENST00000682885.1:c.3319+259G>A	ENSP00000508036.1:n.3319+259G>A
ENST00000682933.1:n.3438+259G>A
ENST00000683002.1:c.216+259G>A
ENST00000683072.1:n.3948+259G>A
ENST00000683080.1:n.983+259G>A
ENST00000683125.1:c.3472+259G>A	ENSP00000507939.1:n.3472+259G>A
ENST00000683213.1:c.3367+259G>A	ENSP00000507751.1:n.3367+259G>A
ENST00000683220.1:c.3394+259G>A	ENSP00000507151.1:n.3394+259G>A
ENST00000683329.1:n.4167+259G>A
ENST00000683346.1:c.*3239+259G>A	ENSP00000507458.1:n.*3239+259G>A
ENST00000683409.1:n.1971+259G>A
ENST00000683459.1:n.3951+259G>A
ENST00000683528.1:c.216+259G>A
ENST00000683590.1:c.3112+259G>A	ENSP00000506820.1:n.3112+259G>A
ENST00000683623.1:c.3271+259G>A	ENSP00000507702.1:n.3271+259G>A
ENST00000683645.1:n.3915+259G>A
ENST00000683796.1:c.*3236+259G>A	ENSP00000508221.1:n.*3236+259G>A
ENST00000683802.1:n.6289+259G>A
ENST00000683833.1:c.3355+259G>A	ENSP00000506852.1:n.3355+259G>A
ENST00000683994.1:c.3364+259G>A	ENSP00000507181.1:n.3364+259G>A
ENST00000684290.1:c.*900+259G>A	ENSP00000507243.1:n.*900+259G>A
ENST00000684306.1:c.*3277+259G>A	ENSP00000508384.1:n.*3277+259G>A
ENST00000684341.1:n.3384+259G>A
ENST00000684383.1:c.*3002+259G>A	ENSP00000506863.1:n.*3002+259G>A
ENST00000684418.1:n.4545+259G>A
ENST00000684454.1:n.2714+259G>A
ENST00000684619.1:c.*3236+259G>A	ENSP00000508088.1:n.*3236+259G>A
ENST00000684743.1:n.4395+259G>A
ENST00000260665.12:c.3364+259G>A MANE Select	ENSP00000260665.7:n.3364+259G>A
ENST00000260665.11:c.3364+259G>A	ENSP00000260665.7:n.3364+259G>A
NM_133259.3:c.3364+259G>A	NP_573566.2:n.3364+259G>A
XM_006711915.2:c.3286+259G>A	XP_006711978.1:n.3286+259G>A
XM_011532473.1:c.3364+259G>A	XP_011530775.1:n.3364+259G>A
XM_011532474.1:c.3364+259G>A	XP_011530776.1:n.3364+259G>A
XM_017003117.1:c.3286+259G>A	XP_016858606.1:n.3286+259G>A
XR_002958896.1:n.3406+259G>A
NM_133259.4:c.3364+259G>A MANE Select	NP_573566.2:n.3364+259G>A