Canonical Allele Identifier: CA346676572

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126422A>C (hg19) ; chr2:g.43899283A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899283A>C , CM000664.2:g.43899283A>C	GRCh38
NC_000002.11:g.44126422A>C , CM000664.1:g.44126422A>C	GRCh37
NC_000002.10:g.43979926A>C	NCBI36
NG_008247.1:g.101723T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.192T>G
ENST00000472420.6:n.840T>G
ENST00000483489.2:n.192T>G
ENST00000681993.1:n.1313T>G
ENST00000682303.1:c.*3547T>G	ENSP00000508325.1:n.*3547T>G
ENST00000682308.1:c.3761T>G	ENSP00000507056.1:p.Val1254Gly
ENST00000682434.1:n.1312T>G
ENST00000682480.1:c.3779T>G	ENSP00000508344.1:p.Val1260Gly
ENST00000682546.1:c.3758T>G	ENSP00000508188.1:p.Val1253Gly
ENST00000682585.1:c.3761T>G	ENSP00000506885.1:p.Val1254Gly
ENST00000682595.1:n.4345T>G
ENST00000682607.1:c.2179T>G
ENST00000682612.1:c.613T>G
ENST00000682779.1:c.3752T>G	ENSP00000507947.1:p.Val1251Gly
ENST00000682845.1:n.2863T>G
ENST00000682885.1:c.3716T>G	ENSP00000508036.1:p.Val1239Gly
ENST00000682933.1:n.3835T>G
ENST00000683002.1:c.613T>G
ENST00000683072.1:n.4345T>G
ENST00000683080.1:n.1380T>G
ENST00000683125.1:c.3869T>G	ENSP00000507939.1:p.Val1290Gly
ENST00000683213.1:c.3764T>G	ENSP00000507751.1:p.Val1255Gly
ENST00000683220.1:c.3791T>G	ENSP00000507151.1:p.Val1264Gly
ENST00000683329.1:n.4564T>G
ENST00000683346.1:c.*3636T>G	ENSP00000507458.1:n.*3636T>G
ENST00000683409.1:n.2368T>G
ENST00000683459.1:n.4348T>G
ENST00000683528.1:c.689T>G
ENST00000683590.1:c.3509T>G	ENSP00000506820.1:p.Val1170Gly
ENST00000683623.1:c.3668T>G	ENSP00000507702.1:p.Val1223Gly
ENST00000683645.1:n.4312T>G
ENST00000683796.1:c.*3633T>G	ENSP00000508221.1:n.*3633T>G
ENST00000683802.1:n.6686T>G
ENST00000683833.1:c.3752T>G	ENSP00000506852.1:p.Val1251Gly
ENST00000683994.1:c.3761T>G	ENSP00000507181.1:p.Val1254Gly
ENST00000684290.1:c.*1297T>G	ENSP00000507243.1:n.*1297T>G
ENST00000684306.1:c.*3674T>G	ENSP00000508384.1:n.*3674T>G
ENST00000684341.1:n.3781T>G
ENST00000684383.1:c.*3399T>G	ENSP00000506863.1:n.*3399T>G
ENST00000684418.1:n.4942T>G
ENST00000684433.1:n.145T>G
ENST00000684454.1:n.3111T>G
ENST00000684619.1:c.*3633T>G	ENSP00000508088.1:n.*3633T>G
ENST00000684743.1:n.6506T>G
ENST00000260665.12:c.3761T>G MANE Select	ENSP00000260665.7:p.Val1254Gly
ENST00000260665.11:c.3761T>G	ENSP00000260665.7:p.Val1254Gly
ENST00000419884.5:c.2T>G	ENSP00000414207.1:p.Val1Gly
ENST00000463456.5:n.2804T>G
ENST00000472420.5:n.158T>G
ENST00000483489.1:n.235T>G
NM_133259.3:c.3761T>G	NP_573566.2:p.Val1254Gly
XM_006711915.2:c.3683T>G	XP_006711978.1:p.Val1228Gly
XM_011532473.1:c.3761T>G	XP_011530775.1:p.Val1254Gly
XM_011532474.1:c.3761T>G	XP_011530776.1:p.Val1254Gly
XM_017003117.1:c.3683T>G	XP_016858606.1:p.Val1228Gly
XR_002958896.1:n.3803T>G
NM_133259.4:c.3761T>G MANE Select	NP_573566.2:p.Val1254Gly