Canonical Allele Identifier: CA46506351

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1543923
• ClinVar RCV Id: RCV002172598
• dbSNP Id: rs908822636
• gnomAD v4: 2-43899252-T-A
• MyVariant Identifiers: chr2:g.44126391T>A (hg19) ; chr2:g.43899252T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899252T>A , CM000664.2:g.43899252T>A	GRCh38
NC_000002.11:g.44126391T>A , CM000664.1:g.44126391T>A	GRCh37
NC_000002.10:g.43979895T>A	NCBI36
NG_008247.1:g.101754A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.223A>T
ENST00000472420.6:n.871A>T
ENST00000483489.2:n.223A>T
ENST00000681993.1:n.1344A>T
ENST00000682303.1:c.*3578A>T	ENSP00000508325.1:n.*3578A>T
ENST00000682308.1:c.3792A>T	ENSP00000507056.1:p.Ala1264=
ENST00000682434.1:n.1343A>T
ENST00000682480.1:c.3810A>T	ENSP00000508344.1:p.Ala1270=
ENST00000682546.1:c.3789A>T	ENSP00000508188.1:p.Ala1263=
ENST00000682585.1:c.3792A>T	ENSP00000506885.1:p.Ala1264=
ENST00000682595.1:n.4376A>T
ENST00000682607.1:c.2210A>T
ENST00000682612.1:c.644A>T
ENST00000682779.1:c.3783A>T	ENSP00000507947.1:p.Ala1261=
ENST00000682845.1:n.2894A>T
ENST00000682885.1:c.3747A>T	ENSP00000508036.1:p.Ala1249=
ENST00000682933.1:n.3866A>T
ENST00000683002.1:c.644A>T
ENST00000683072.1:n.4376A>T
ENST00000683080.1:n.1411A>T
ENST00000683125.1:c.3900A>T	ENSP00000507939.1:p.Ala1300=
ENST00000683213.1:c.3795A>T	ENSP00000507751.1:p.Ala1265=
ENST00000683220.1:c.3822A>T	ENSP00000507151.1:p.Ala1274=
ENST00000683329.1:n.4595A>T
ENST00000683346.1:c.*3667A>T	ENSP00000507458.1:n.*3667A>T
ENST00000683409.1:n.2399A>T
ENST00000683459.1:n.4379A>T
ENST00000683528.1:c.720A>T
ENST00000683590.1:c.3540A>T	ENSP00000506820.1:p.Ala1180=
ENST00000683623.1:c.3699A>T	ENSP00000507702.1:p.Ala1233=
ENST00000683645.1:n.4343A>T
ENST00000683796.1:c.*3664A>T	ENSP00000508221.1:n.*3664A>T
ENST00000683802.1:n.6717A>T
ENST00000683833.1:c.3783A>T	ENSP00000506852.1:p.Ala1261=
ENST00000683994.1:c.3792A>T	ENSP00000507181.1:p.Ala1264=
ENST00000684290.1:c.*1328A>T	ENSP00000507243.1:n.*1328A>T
ENST00000684306.1:c.*3705A>T	ENSP00000508384.1:n.*3705A>T
ENST00000684341.1:n.3812A>T
ENST00000684383.1:c.*3430A>T	ENSP00000506863.1:n.*3430A>T
ENST00000684418.1:n.4973A>T
ENST00000684433.1:n.176A>T
ENST00000684454.1:n.3142A>T
ENST00000684619.1:c.*3664A>T	ENSP00000508088.1:n.*3664A>T
ENST00000684743.1:n.6537A>T
ENST00000260665.12:c.3792A>T MANE Select	ENSP00000260665.7:p.Ala1264=
ENST00000260665.11:c.3792A>T	ENSP00000260665.7:p.Ala1264=
ENST00000419884.5:c.33A>T	ENSP00000414207.1:p.Ala11=
ENST00000463456.5:n.2835A>T
ENST00000472420.5:n.189A>T
ENST00000483489.1:n.266A>T
NM_133259.3:c.3792A>T	NP_573566.2:p.Ala1264=
XM_006711915.2:c.3714A>T	XP_006711978.1:p.Ala1238=
XM_011532473.1:c.3792A>T	XP_011530775.1:p.Ala1264=
XM_011532474.1:c.3792A>T	XP_011530776.1:p.Ala1264=
XM_017003117.1:c.3714A>T	XP_016858606.1:p.Ala1238=
XR_002958896.1:n.3834A>T
NM_133259.4:c.3792A>T MANE Select	NP_573566.2:p.Ala1264=