Canonical Allele Identifier: CA346676634

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899298-G-A
• MyVariant Identifiers: chr2:g.44126437G>A (hg19) ; chr2:g.43899298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899298G>A , CM000664.2:g.43899298G>A	GRCh38
NC_000002.11:g.44126437G>A , CM000664.1:g.44126437G>A	GRCh37
NC_000002.10:g.43979941G>A	NCBI36
NG_008247.1:g.101708C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.177C>T
ENST00000472420.6:n.825C>T
ENST00000483489.2:n.177C>T
ENST00000681993.1:n.1298C>T
ENST00000682303.1:c.*3532C>T	ENSP00000508325.1:n.*3532C>T
ENST00000682308.1:c.3746C>T	ENSP00000507056.1:p.Ala1249Val
ENST00000682434.1:n.1297C>T
ENST00000682480.1:c.3764C>T	ENSP00000508344.1:p.Ala1255Val
ENST00000682546.1:c.3743C>T	ENSP00000508188.1:p.Ala1248Val
ENST00000682585.1:c.3746C>T	ENSP00000506885.1:p.Ala1249Val
ENST00000682595.1:n.4330C>T
ENST00000682607.1:c.2164C>T
ENST00000682612.1:c.598C>T
ENST00000682779.1:c.3737C>T	ENSP00000507947.1:p.Ala1246Val
ENST00000682845.1:n.2848C>T
ENST00000682885.1:c.3701C>T	ENSP00000508036.1:p.Ala1234Val
ENST00000682933.1:n.3820C>T
ENST00000683002.1:c.598C>T
ENST00000683072.1:n.4330C>T
ENST00000683080.1:n.1365C>T
ENST00000683125.1:c.3854C>T	ENSP00000507939.1:p.Ala1285Val
ENST00000683213.1:c.3749C>T	ENSP00000507751.1:p.Ala1250Val
ENST00000683220.1:c.3776C>T	ENSP00000507151.1:p.Ala1259Val
ENST00000683329.1:n.4549C>T
ENST00000683346.1:c.*3621C>T	ENSP00000507458.1:n.*3621C>T
ENST00000683409.1:n.2353C>T
ENST00000683459.1:n.4333C>T
ENST00000683528.1:c.674C>T
ENST00000683590.1:c.3494C>T	ENSP00000506820.1:p.Ala1165Val
ENST00000683623.1:c.3653C>T	ENSP00000507702.1:p.Ala1218Val
ENST00000683645.1:n.4297C>T
ENST00000683796.1:c.*3618C>T	ENSP00000508221.1:n.*3618C>T
ENST00000683802.1:n.6671C>T
ENST00000683833.1:c.3737C>T	ENSP00000506852.1:p.Ala1246Val
ENST00000683994.1:c.3746C>T	ENSP00000507181.1:p.Ala1249Val
ENST00000684290.1:c.*1282C>T	ENSP00000507243.1:n.*1282C>T
ENST00000684306.1:c.*3659C>T	ENSP00000508384.1:n.*3659C>T
ENST00000684341.1:n.3766C>T
ENST00000684383.1:c.*3384C>T	ENSP00000506863.1:n.*3384C>T
ENST00000684418.1:n.4927C>T
ENST00000684433.1:n.130C>T
ENST00000684454.1:n.3096C>T
ENST00000684619.1:c.*3618C>T	ENSP00000508088.1:n.*3618C>T
ENST00000684743.1:n.6491C>T
ENST00000260665.12:c.3746C>T MANE Select	ENSP00000260665.7:p.Ala1249Val
ENST00000260665.11:c.3746C>T	ENSP00000260665.7:p.Ala1249Val
ENST00000463456.5:n.2789C>T
ENST00000472420.5:n.143C>T
ENST00000483489.1:n.220C>T
NM_133259.3:c.3746C>T	NP_573566.2:p.Ala1249Val
XM_006711915.2:c.3668C>T	XP_006711978.1:p.Ala1223Val
XM_011532473.1:c.3746C>T	XP_011530775.1:p.Ala1249Val
XM_011532474.1:c.3746C>T	XP_011530776.1:p.Ala1249Val
XM_017003117.1:c.3668C>T	XP_016858606.1:p.Ala1223Val
XR_002958896.1:n.3788C>T
NM_133259.4:c.3746C>T MANE Select	NP_573566.2:p.Ala1249Val