Canonical Allele Identifier: CA46506040

Gene: LRPPRC

Linked Data

• dbSNP Id: rs958251386
• gnomAD v2: 2-44126085-C-T
• gnomAD v3: 2-43898946-C-T
• gnomAD v4: 2-43898946-C-T
• MyVariant Identifiers: chr2:g.44126085C>T (hg19) ; chr2:g.43898946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43898946C>T , CM000664.2:g.43898946C>T	GRCh38
NC_000002.11:g.44126085C>T , CM000664.1:g.44126085C>T	GRCh37
NC_000002.10:g.43979589C>T	NCBI36
NG_008247.1:g.102060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.256+273G>A
ENST00000472420.6:n.904+273G>A
ENST00000483489.2:n.256+273G>A
ENST00000681993.1:n.1377+273G>A
ENST00000682303.1:c.*3611+273G>A	ENSP00000508325.1:n.*3611+273G>A
ENST00000682308.1:c.3825+273G>A	ENSP00000507056.1:n.3825+273G>A
ENST00000682434.1:n.1376+273G>A
ENST00000682480.1:c.3843+273G>A	ENSP00000508344.1:n.3843+273G>A
ENST00000682546.1:c.3822+273G>A	ENSP00000508188.1:n.3822+273G>A
ENST00000682585.1:c.3825+273G>A	ENSP00000506885.1:n.3825+273G>A
ENST00000682595.1:n.4409+273G>A
ENST00000682607.1:c.2243+273G>A
ENST00000682612.1:c.677+273G>A
ENST00000682779.1:c.3816+273G>A	ENSP00000507947.1:n.3816+273G>A
ENST00000682885.1:c.3780+273G>A	ENSP00000508036.1:n.3780+273G>A
ENST00000682933.1:n.3899+273G>A
ENST00000683002.1:c.677+273G>A
ENST00000683072.1:n.4409+273G>A
ENST00000683080.1:n.1444+273G>A
ENST00000683125.1:c.3933+273G>A	ENSP00000507939.1:n.3933+273G>A
ENST00000683213.1:c.3828+273G>A	ENSP00000507751.1:n.3828+273G>A
ENST00000683220.1:c.3855+273G>A	ENSP00000507151.1:n.3855+273G>A
ENST00000683329.1:n.4628+273G>A
ENST00000683346.1:c.*3700+273G>A	ENSP00000507458.1:n.*3700+273G>A
ENST00000683409.1:n.2432+273G>A
ENST00000683459.1:n.4412+273G>A
ENST00000683590.1:c.3573+273G>A	ENSP00000506820.1:n.3573+273G>A
ENST00000683623.1:c.3732+273G>A	ENSP00000507702.1:n.3732+273G>A
ENST00000683645.1:n.4649G>A
ENST00000683796.1:c.*3697+273G>A	ENSP00000508221.1:n.*3697+273G>A
ENST00000683833.1:c.3816+273G>A	ENSP00000506852.1:n.3816+273G>A
ENST00000683994.1:c.3825+273G>A	ENSP00000507181.1:n.3825+273G>A
ENST00000684290.1:c.*1361+273G>A	ENSP00000507243.1:n.*1361+273G>A
ENST00000684306.1:c.*3738+273G>A	ENSP00000508384.1:n.*3738+273G>A
ENST00000684341.1:n.3845+273G>A
ENST00000684383.1:c.*3463+273G>A	ENSP00000506863.1:n.*3463+273G>A
ENST00000684418.1:n.5006+273G>A
ENST00000684433.1:n.209+273G>A
ENST00000684454.1:n.3448G>A
ENST00000684619.1:c.*3697+273G>A	ENSP00000508088.1:n.*3697+273G>A
ENST00000684743.1:n.6570+273G>A
ENST00000260665.12:c.3825+273G>A MANE Select	ENSP00000260665.7:n.3825+273G>A
ENST00000260665.11:c.3825+273G>A	ENSP00000260665.7:n.3825+273G>A
ENST00000419884.5:c.66+273G>A	ENSP00000414207.1:n.66+273G>A
ENST00000463456.5:n.2868+273G>A
ENST00000472420.5:n.222+273G>A
ENST00000483489.1:n.299+273G>A
NM_133259.3:c.3825+273G>A	NP_573566.2:n.3825+273G>A
XM_006711915.2:c.3747+273G>A	XP_006711978.1:n.3747+273G>A
XM_011532473.1:c.3825+273G>A	XP_011530775.1:n.3825+273G>A
XM_011532474.1:c.3825+273G>A	XP_011530776.1:n.3825+273G>A
XM_017003117.1:c.3747+273G>A	XP_016858606.1:n.3747+273G>A
XR_002958896.1:n.3867+273G>A
NM_133259.4:c.3825+273G>A MANE Select	NP_573566.2:n.3825+273G>A