Canonical Allele Identifier: CA425908235

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2779492
• ClinVar RCV Id: RCV003663646
• gnomAD v4: 2-43905752-G-A
• MyVariant Identifiers: chr2:g.44132891G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905752G>A , CM000664.2:g.43905752G>A	GRCh38
NC_000002.11:g.44132891G>A , CM000664.1:g.44132891G>A	GRCh37
NC_000002.10:g.43986395G>A	NCBI36
NG_008247.1:g.95254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.383C>T
ENST00000681993.1:n.856C>T
ENST00000682295.1:c.459C>T	ENSP00000507499.1:n.459C>T
ENST00000682303.1:c.*3090C>T	ENSP00000508325.1:n.*3090C>T
ENST00000682308.1:c.3304C>T	ENSP00000507056.1:p.Leu1102=
ENST00000682480.1:c.3322C>T	ENSP00000508344.1:p.Leu1108=
ENST00000682546.1:c.3301C>T	ENSP00000508188.1:p.Leu1101=
ENST00000682585.1:c.3304C>T	ENSP00000506885.1:p.Leu1102=
ENST00000682595.1:n.3888C>T
ENST00000682607.1:c.1722C>T
ENST00000682612.1:c.156C>T
ENST00000682779.1:c.3295C>T	ENSP00000507947.1:p.Leu1099=
ENST00000682845.1:n.2406C>T
ENST00000682885.1:c.3259C>T	ENSP00000508036.1:p.Leu1087=
ENST00000682933.1:n.3378C>T
ENST00000683002.1:c.156C>T
ENST00000683072.1:n.3888C>T
ENST00000683080.1:n.923C>T
ENST00000683125.1:c.3412C>T	ENSP00000507939.1:p.Leu1138=
ENST00000683213.1:c.3307C>T	ENSP00000507751.1:p.Leu1103=
ENST00000683220.1:c.3334C>T	ENSP00000507151.1:p.Leu1112=
ENST00000683329.1:n.4107C>T
ENST00000683346.1:c.*3179C>T	ENSP00000507458.1:n.*3179C>T
ENST00000683409.1:n.1911C>T
ENST00000683459.1:n.3891C>T
ENST00000683528.1:c.156C>T
ENST00000683590.1:c.3052C>T	ENSP00000506820.1:p.Leu1018=
ENST00000683623.1:c.3211C>T	ENSP00000507702.1:p.Leu1071=
ENST00000683645.1:n.3855C>T
ENST00000683796.1:c.*3176C>T	ENSP00000508221.1:n.*3176C>T
ENST00000683802.1:n.6229C>T
ENST00000683833.1:c.3295C>T	ENSP00000506852.1:p.Leu1099=
ENST00000683994.1:c.3304C>T	ENSP00000507181.1:p.Leu1102=
ENST00000684290.1:c.*840C>T	ENSP00000507243.1:n.*840C>T
ENST00000684306.1:c.*3217C>T	ENSP00000508384.1:n.*3217C>T
ENST00000684341.1:n.3324C>T
ENST00000684383.1:c.*2942C>T	ENSP00000506863.1:n.*2942C>T
ENST00000684418.1:n.4485C>T
ENST00000684454.1:n.2654C>T
ENST00000684619.1:c.*3176C>T	ENSP00000508088.1:n.*3176C>T
ENST00000684743.1:n.4335C>T
ENST00000260665.12:c.3304C>T MANE Select	ENSP00000260665.7:p.Leu1102=
ENST00000260665.11:c.3304C>T	ENSP00000260665.7:p.Leu1102=
NM_133259.3:c.3304C>T	NP_573566.2:p.Leu1102=
XM_006711915.2:c.3226C>T	XP_006711978.1:p.Leu1076=
XM_011532473.1:c.3304C>T	XP_011530775.1:p.Leu1102=
XM_011532474.1:c.3304C>T	XP_011530776.1:p.Leu1102=
XM_017003117.1:c.3226C>T	XP_016858606.1:p.Leu1076=
XR_002958896.1:n.3346C>T
NM_133259.4:c.3304C>T MANE Select	NP_573566.2:p.Leu1102=