Canonical Allele Identifier: CA1029985016

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670793093
• gnomAD v3: 2-43898994-A-G
• gnomAD v4: 2-43898994-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43898994A>G , CM000664.2:g.43898994A>G	GRCh38
NC_000002.11:g.44126133A>G , CM000664.1:g.44126133A>G	GRCh37
NC_000002.10:g.43979637A>G	NCBI36
NG_008247.1:g.102012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.256+225T>C
ENST00000472420.6:n.904+225T>C
ENST00000483489.2:n.256+225T>C
ENST00000681993.1:n.1377+225T>C
ENST00000682303.1:c.*3611+225T>C	ENSP00000508325.1:n.*3611+225T>C
ENST00000682308.1:c.3825+225T>C	ENSP00000507056.1:n.3825+225T>C
ENST00000682434.1:n.1376+225T>C
ENST00000682480.1:c.3843+225T>C	ENSP00000508344.1:n.3843+225T>C
ENST00000682546.1:c.3822+225T>C	ENSP00000508188.1:n.3822+225T>C
ENST00000682585.1:c.3825+225T>C	ENSP00000506885.1:n.3825+225T>C
ENST00000682595.1:n.4409+225T>C
ENST00000682607.1:c.2243+225T>C
ENST00000682612.1:c.677+225T>C
ENST00000682779.1:c.3816+225T>C	ENSP00000507947.1:n.3816+225T>C
ENST00000682885.1:c.3780+225T>C	ENSP00000508036.1:n.3780+225T>C
ENST00000682933.1:n.3899+225T>C
ENST00000683002.1:c.677+225T>C
ENST00000683072.1:n.4409+225T>C
ENST00000683080.1:n.1444+225T>C
ENST00000683125.1:c.3933+225T>C	ENSP00000507939.1:n.3933+225T>C
ENST00000683213.1:c.3828+225T>C	ENSP00000507751.1:n.3828+225T>C
ENST00000683220.1:c.3855+225T>C	ENSP00000507151.1:n.3855+225T>C
ENST00000683329.1:n.4628+225T>C
ENST00000683346.1:c.*3700+225T>C	ENSP00000507458.1:n.*3700+225T>C
ENST00000683409.1:n.2432+225T>C
ENST00000683459.1:n.4412+225T>C
ENST00000683590.1:c.3573+225T>C	ENSP00000506820.1:n.3573+225T>C
ENST00000683623.1:c.3732+225T>C	ENSP00000507702.1:n.3732+225T>C
ENST00000683645.1:n.4601T>C
ENST00000683796.1:c.*3697+225T>C	ENSP00000508221.1:n.*3697+225T>C
ENST00000683833.1:c.3816+225T>C	ENSP00000506852.1:n.3816+225T>C
ENST00000683994.1:c.3825+225T>C	ENSP00000507181.1:n.3825+225T>C
ENST00000684290.1:c.*1361+225T>C	ENSP00000507243.1:n.*1361+225T>C
ENST00000684306.1:c.*3738+225T>C	ENSP00000508384.1:n.*3738+225T>C
ENST00000684341.1:n.3845+225T>C
ENST00000684383.1:c.*3463+225T>C	ENSP00000506863.1:n.*3463+225T>C
ENST00000684418.1:n.5006+225T>C
ENST00000684433.1:n.209+225T>C
ENST00000684454.1:n.3400T>C
ENST00000684619.1:c.*3697+225T>C	ENSP00000508088.1:n.*3697+225T>C
ENST00000684743.1:n.6570+225T>C
ENST00000260665.12:c.3825+225T>C MANE Select	ENSP00000260665.7:n.3825+225T>C
ENST00000260665.11:c.3825+225T>C	ENSP00000260665.7:n.3825+225T>C
ENST00000419884.5:c.66+225T>C	ENSP00000414207.1:n.66+225T>C
ENST00000463456.5:n.2868+225T>C
ENST00000472420.5:n.222+225T>C
ENST00000483489.1:n.299+225T>C
NM_133259.3:c.3825+225T>C	NP_573566.2:n.3825+225T>C
XM_006711915.2:c.3747+225T>C	XP_006711978.1:n.3747+225T>C
XM_011532473.1:c.3825+225T>C	XP_011530775.1:n.3825+225T>C
XM_011532474.1:c.3825+225T>C	XP_011530776.1:n.3825+225T>C
XM_017003117.1:c.3747+225T>C	XP_016858606.1:n.3747+225T>C
XR_002958896.1:n.3867+225T>C
NM_133259.4:c.3825+225T>C MANE Select	NP_573566.2:n.3825+225T>C