Canonical Allele Identifier: CA769099527

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1326788283
• gnomAD v4: 2-43899108-G-A
• MyVariant Identifiers: chr2:g.44126247G>A (hg19) ; chr2:g.43899108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899108G>A , CM000664.2:g.43899108G>A	GRCh38
NC_000002.11:g.44126247G>A , CM000664.1:g.44126247G>A	GRCh37
NC_000002.10:g.43979751G>A	NCBI36
NG_008247.1:g.101898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.256+111C>T
ENST00000472420.6:n.904+111C>T
ENST00000483489.2:n.256+111C>T
ENST00000681993.1:n.1377+111C>T
ENST00000682303.1:c.*3611+111C>T	ENSP00000508325.1:n.*3611+111C>T
ENST00000682308.1:c.3825+111C>T	ENSP00000507056.1:n.3825+111C>T
ENST00000682434.1:n.1376+111C>T
ENST00000682480.1:c.3843+111C>T	ENSP00000508344.1:n.3843+111C>T
ENST00000682546.1:c.3822+111C>T	ENSP00000508188.1:n.3822+111C>T
ENST00000682585.1:c.3825+111C>T	ENSP00000506885.1:n.3825+111C>T
ENST00000682595.1:n.4409+111C>T
ENST00000682607.1:c.2243+111C>T
ENST00000682612.1:c.677+111C>T
ENST00000682779.1:c.3816+111C>T	ENSP00000507947.1:n.3816+111C>T
ENST00000682885.1:c.3780+111C>T	ENSP00000508036.1:n.3780+111C>T
ENST00000682933.1:n.3899+111C>T
ENST00000683002.1:c.677+111C>T
ENST00000683072.1:n.4409+111C>T
ENST00000683080.1:n.1444+111C>T
ENST00000683125.1:c.3933+111C>T	ENSP00000507939.1:n.3933+111C>T
ENST00000683213.1:c.3828+111C>T	ENSP00000507751.1:n.3828+111C>T
ENST00000683220.1:c.3855+111C>T	ENSP00000507151.1:n.3855+111C>T
ENST00000683329.1:n.4628+111C>T
ENST00000683346.1:c.*3700+111C>T	ENSP00000507458.1:n.*3700+111C>T
ENST00000683409.1:n.2432+111C>T
ENST00000683459.1:n.4412+111C>T
ENST00000683590.1:c.3573+111C>T	ENSP00000506820.1:n.3573+111C>T
ENST00000683623.1:c.3732+111C>T	ENSP00000507702.1:n.3732+111C>T
ENST00000683645.1:n.4487C>T
ENST00000683796.1:c.*3697+111C>T	ENSP00000508221.1:n.*3697+111C>T
ENST00000683833.1:c.3816+111C>T	ENSP00000506852.1:n.3816+111C>T
ENST00000683994.1:c.3825+111C>T	ENSP00000507181.1:n.3825+111C>T
ENST00000684290.1:c.*1361+111C>T	ENSP00000507243.1:n.*1361+111C>T
ENST00000684306.1:c.*3738+111C>T	ENSP00000508384.1:n.*3738+111C>T
ENST00000684341.1:n.3845+111C>T
ENST00000684383.1:c.*3463+111C>T	ENSP00000506863.1:n.*3463+111C>T
ENST00000684418.1:n.5006+111C>T
ENST00000684433.1:n.209+111C>T
ENST00000684454.1:n.3286C>T
ENST00000684619.1:c.*3697+111C>T	ENSP00000508088.1:n.*3697+111C>T
ENST00000684743.1:n.6570+111C>T
ENST00000260665.12:c.3825+111C>T MANE Select	ENSP00000260665.7:n.3825+111C>T
ENST00000260665.11:c.3825+111C>T	ENSP00000260665.7:n.3825+111C>T
ENST00000419884.5:c.66+111C>T	ENSP00000414207.1:n.66+111C>T
ENST00000463456.5:n.2868+111C>T
ENST00000472420.5:n.222+111C>T
ENST00000483489.1:n.299+111C>T
NM_133259.3:c.3825+111C>T	NP_573566.2:n.3825+111C>T
XM_006711915.2:c.3747+111C>T	XP_006711978.1:n.3747+111C>T
XM_011532473.1:c.3825+111C>T	XP_011530775.1:n.3825+111C>T
XM_011532474.1:c.3825+111C>T	XP_011530776.1:n.3825+111C>T
XM_017003117.1:c.3747+111C>T	XP_016858606.1:n.3747+111C>T
XR_002958896.1:n.3867+111C>T
NM_133259.4:c.3825+111C>T MANE Select	NP_573566.2:n.3825+111C>T