Canonical Allele Identifier: CA425909243

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2700128
• ClinVar RCV Id: RCV003547088
• gnomAD v4: 2-43899225-G-T
• MyVariant Identifiers: chr2:g.44126364G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899225G>T , CM000664.2:g.43899225G>T	GRCh38
NC_000002.11:g.44126364G>T , CM000664.1:g.44126364G>T	GRCh37
NC_000002.10:g.43979868G>T	NCBI36
NG_008247.1:g.101781C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.250C>A
ENST00000472420.6:n.898C>A
ENST00000483489.2:n.250C>A
ENST00000681993.1:n.1371C>A
ENST00000682303.1:c.*3605C>A	ENSP00000508325.1:n.*3605C>A
ENST00000682308.1:c.3819C>A	ENSP00000507056.1:p.Leu1273=
ENST00000682434.1:n.1370C>A
ENST00000682480.1:c.3837C>A	ENSP00000508344.1:p.Leu1279=
ENST00000682546.1:c.3816C>A	ENSP00000508188.1:p.Leu1272=
ENST00000682585.1:c.3819C>A	ENSP00000506885.1:p.Leu1273=
ENST00000682595.1:n.4403C>A
ENST00000682607.1:c.2237C>A
ENST00000682612.1:c.671C>A
ENST00000682779.1:c.3810C>A	ENSP00000507947.1:p.Leu1270=
ENST00000682885.1:c.3774C>A	ENSP00000508036.1:p.Leu1258=
ENST00000682933.1:n.3893C>A
ENST00000683002.1:c.671C>A
ENST00000683072.1:n.4403C>A
ENST00000683080.1:n.1438C>A
ENST00000683125.1:c.3927C>A	ENSP00000507939.1:p.Leu1309=
ENST00000683213.1:c.3822C>A	ENSP00000507751.1:p.Leu1274=
ENST00000683220.1:c.3849C>A	ENSP00000507151.1:p.Leu1283=
ENST00000683329.1:n.4622C>A
ENST00000683346.1:c.*3694C>A	ENSP00000507458.1:n.*3694C>A
ENST00000683409.1:n.2426C>A
ENST00000683459.1:n.4406C>A
ENST00000683528.1:c.747C>A
ENST00000683590.1:c.3567C>A	ENSP00000506820.1:p.Leu1189=
ENST00000683623.1:c.3726C>A	ENSP00000507702.1:p.Leu1242=
ENST00000683645.1:n.4370C>A
ENST00000683796.1:c.*3691C>A	ENSP00000508221.1:n.*3691C>A
ENST00000683833.1:c.3810C>A	ENSP00000506852.1:p.Leu1270=
ENST00000683994.1:c.3819C>A	ENSP00000507181.1:p.Leu1273=
ENST00000684290.1:c.*1355C>A	ENSP00000507243.1:n.*1355C>A
ENST00000684306.1:c.*3732C>A	ENSP00000508384.1:n.*3732C>A
ENST00000684341.1:n.3839C>A
ENST00000684383.1:c.*3457C>A	ENSP00000506863.1:n.*3457C>A
ENST00000684418.1:n.5000C>A
ENST00000684433.1:n.203C>A
ENST00000684454.1:n.3169C>A
ENST00000684619.1:c.*3691C>A	ENSP00000508088.1:n.*3691C>A
ENST00000684743.1:n.6564C>A
ENST00000260665.12:c.3819C>A MANE Select	ENSP00000260665.7:p.Leu1273=
ENST00000260665.11:c.3819C>A	ENSP00000260665.7:p.Leu1273=
ENST00000419884.5:c.60C>A	ENSP00000414207.1:p.Leu20=
ENST00000463456.5:n.2862C>A
ENST00000472420.5:n.216C>A
ENST00000483489.1:n.293C>A
NM_133259.3:c.3819C>A	NP_573566.2:p.Leu1273=
XM_006711915.2:c.3741C>A	XP_006711978.1:p.Leu1247=
XM_011532473.1:c.3819C>A	XP_011530775.1:p.Leu1273=
XM_011532474.1:c.3819C>A	XP_011530776.1:p.Leu1273=
XM_017003117.1:c.3741C>A	XP_016858606.1:p.Leu1247=
XR_002958896.1:n.3861C>A
NM_133259.4:c.3819C>A MANE Select	NP_573566.2:p.Leu1273=