Canonical Allele Identifier: CA346676321

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126360G>T (hg19) ; chr2:g.43899221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899221G>T , CM000664.2:g.43899221G>T	GRCh38
NC_000002.11:g.44126360G>T , CM000664.1:g.44126360G>T	GRCh37
NC_000002.10:g.43979864G>T	NCBI36
NG_008247.1:g.101785C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.254C>A
ENST00000472420.6:n.902C>A
ENST00000483489.2:n.254C>A
ENST00000681993.1:n.1375C>A
ENST00000682303.1:c.*3609C>A	ENSP00000508325.1:n.*3609C>A
ENST00000682308.1:c.3823C>A	ENSP00000507056.1:p.Gln1275Lys
ENST00000682434.1:n.1374C>A
ENST00000682480.1:c.3841C>A	ENSP00000508344.1:p.Gln1281Lys
ENST00000682546.1:c.3820C>A	ENSP00000508188.1:p.Gln1274Lys
ENST00000682585.1:c.3823C>A	ENSP00000506885.1:p.Gln1275Lys
ENST00000682595.1:n.4407C>A
ENST00000682607.1:c.2241C>A
ENST00000682612.1:c.675C>A
ENST00000682779.1:c.3814C>A	ENSP00000507947.1:p.Gln1272Lys
ENST00000682885.1:c.3778C>A	ENSP00000508036.1:p.Gln1260Lys
ENST00000682933.1:n.3897C>A
ENST00000683002.1:c.675C>A
ENST00000683072.1:n.4407C>A
ENST00000683080.1:n.1442C>A
ENST00000683125.1:c.3931C>A	ENSP00000507939.1:p.Gln1311Lys
ENST00000683213.1:c.3826C>A	ENSP00000507751.1:p.Gln1276Lys
ENST00000683220.1:c.3853C>A	ENSP00000507151.1:p.Gln1285Lys
ENST00000683329.1:n.4626C>A
ENST00000683346.1:c.*3698C>A	ENSP00000507458.1:n.*3698C>A
ENST00000683409.1:n.2430C>A
ENST00000683459.1:n.4410C>A
ENST00000683528.1:c.751C>A
ENST00000683590.1:c.3571C>A	ENSP00000506820.1:p.Gln1191Lys
ENST00000683623.1:c.3730C>A	ENSP00000507702.1:p.Gln1244Lys
ENST00000683645.1:n.4374C>A
ENST00000683796.1:c.*3695C>A	ENSP00000508221.1:n.*3695C>A
ENST00000683833.1:c.3814C>A	ENSP00000506852.1:p.Gln1272Lys
ENST00000683994.1:c.3823C>A	ENSP00000507181.1:p.Gln1275Lys
ENST00000684290.1:c.*1359C>A	ENSP00000507243.1:n.*1359C>A
ENST00000684306.1:c.*3736C>A	ENSP00000508384.1:n.*3736C>A
ENST00000684341.1:n.3843C>A
ENST00000684383.1:c.*3461C>A	ENSP00000506863.1:n.*3461C>A
ENST00000684418.1:n.5004C>A
ENST00000684433.1:n.207C>A
ENST00000684454.1:n.3173C>A
ENST00000684619.1:c.*3695C>A	ENSP00000508088.1:n.*3695C>A
ENST00000684743.1:n.6568C>A
ENST00000260665.12:c.3823C>A MANE Select	ENSP00000260665.7:p.Gln1275Lys
ENST00000260665.11:c.3823C>A	ENSP00000260665.7:p.Gln1275Lys
ENST00000419884.5:c.64C>A	ENSP00000414207.1:p.Gln22Lys
ENST00000463456.5:n.2866C>A
ENST00000472420.5:n.220C>A
ENST00000483489.1:n.297C>A
NM_133259.3:c.3823C>A	NP_573566.2:p.Gln1275Lys
XM_006711915.2:c.3745C>A	XP_006711978.1:p.Gln1249Lys
XM_011532473.1:c.3823C>A	XP_011530775.1:p.Gln1275Lys
XM_011532474.1:c.3823C>A	XP_011530776.1:p.Gln1275Lys
XM_017003117.1:c.3745C>A	XP_016858606.1:p.Gln1249Lys
XR_002958896.1:n.3865C>A
NM_133259.4:c.3823C>A MANE Select	NP_573566.2:p.Gln1275Lys