Canonical Allele Identifier: CA346676636

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126437G>C (hg19) ; chr2:g.43899298G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.177C>G
ENST00000472420.6:n.825C>G
ENST00000483489.2:n.177C>G
ENST00000681993.1:n.1298C>G
ENST00000682303.1:c.*3532C>G	ENSP00000508325.1:n.*3532C>G
ENST00000682308.1:c.3746C>G	ENSP00000507056.1:p.Ala1249Gly
ENST00000682434.1:n.1297C>G
ENST00000682480.1:c.3764C>G	ENSP00000508344.1:p.Ala1255Gly
ENST00000682546.1:c.3743C>G	ENSP00000508188.1:p.Ala1248Gly
ENST00000682585.1:c.3746C>G	ENSP00000506885.1:p.Ala1249Gly
ENST00000682595.1:n.4330C>G
ENST00000682607.1:c.2164C>G
ENST00000682612.1:c.598C>G
ENST00000682779.1:c.3737C>G	ENSP00000507947.1:p.Ala1246Gly
ENST00000682845.1:n.2848C>G
ENST00000682885.1:c.3701C>G	ENSP00000508036.1:p.Ala1234Gly
ENST00000682933.1:n.3820C>G
ENST00000683002.1:c.598C>G
ENST00000683072.1:n.4330C>G
ENST00000683080.1:n.1365C>G
ENST00000683125.1:c.3854C>G	ENSP00000507939.1:p.Ala1285Gly
ENST00000683213.1:c.3749C>G	ENSP00000507751.1:p.Ala1250Gly
ENST00000683220.1:c.3776C>G	ENSP00000507151.1:p.Ala1259Gly
ENST00000683329.1:n.4549C>G
ENST00000683346.1:c.*3621C>G	ENSP00000507458.1:n.*3621C>G
ENST00000683409.1:n.2353C>G
ENST00000683459.1:n.4333C>G
ENST00000683528.1:c.674C>G
ENST00000683590.1:c.3494C>G	ENSP00000506820.1:p.Ala1165Gly
ENST00000683623.1:c.3653C>G	ENSP00000507702.1:p.Ala1218Gly
ENST00000683645.1:n.4297C>G
ENST00000683796.1:c.*3618C>G	ENSP00000508221.1:n.*3618C>G
ENST00000683802.1:n.6671C>G
ENST00000683833.1:c.3737C>G	ENSP00000506852.1:p.Ala1246Gly
ENST00000683994.1:c.3746C>G	ENSP00000507181.1:p.Ala1249Gly
ENST00000684290.1:c.*1282C>G	ENSP00000507243.1:n.*1282C>G
ENST00000684306.1:c.*3659C>G	ENSP00000508384.1:n.*3659C>G
ENST00000684341.1:n.3766C>G
ENST00000684383.1:c.*3384C>G	ENSP00000506863.1:n.*3384C>G
ENST00000684418.1:n.4927C>G
ENST00000684433.1:n.130C>G
ENST00000684454.1:n.3096C>G
ENST00000684619.1:c.*3618C>G	ENSP00000508088.1:n.*3618C>G
ENST00000684743.1:n.6491C>G
ENST00000260665.12:c.3746C>G MANE Select	ENSP00000260665.7:p.Ala1249Gly
ENST00000260665.11:c.3746C>G	ENSP00000260665.7:p.Ala1249Gly
ENST00000463456.5:n.2789C>G
ENST00000472420.5:n.143C>G
ENST00000483489.1:n.220C>G
NM_133259.3:c.3746C>G	NP_573566.2:p.Ala1249Gly
XM_006711915.2:c.3668C>G	XP_006711978.1:p.Ala1223Gly
XM_011532473.1:c.3746C>G	XP_011530775.1:p.Ala1249Gly
XM_011532474.1:c.3746C>G	XP_011530776.1:p.Ala1249Gly
XM_017003117.1:c.3668C>G	XP_016858606.1:p.Ala1223Gly
XR_002958896.1:n.3788C>G
NM_133259.4:c.3746C>G MANE Select	NP_573566.2:p.Ala1249Gly