Canonical Allele Identifier: CA346676583

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126425G>T (hg19) ; chr2:g.43899286G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899286G>T , CM000664.2:g.43899286G>T	GRCh38
NC_000002.11:g.44126425G>T , CM000664.1:g.44126425G>T	GRCh37
NC_000002.10:g.43979929G>T	NCBI36
NG_008247.1:g.101720C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.189C>A
ENST00000472420.6:n.837C>A
ENST00000483489.2:n.189C>A
ENST00000681993.1:n.1310C>A
ENST00000682303.1:c.*3544C>A	ENSP00000508325.1:n.*3544C>A
ENST00000682308.1:c.3758C>A	ENSP00000507056.1:p.Pro1253His
ENST00000682434.1:n.1309C>A
ENST00000682480.1:c.3776C>A	ENSP00000508344.1:p.Pro1259His
ENST00000682546.1:c.3755C>A	ENSP00000508188.1:p.Pro1252His
ENST00000682585.1:c.3758C>A	ENSP00000506885.1:p.Pro1253His
ENST00000682595.1:n.4342C>A
ENST00000682607.1:c.2176C>A
ENST00000682612.1:c.610C>A
ENST00000682779.1:c.3749C>A	ENSP00000507947.1:p.Pro1250His
ENST00000682845.1:n.2860C>A
ENST00000682885.1:c.3713C>A	ENSP00000508036.1:p.Pro1238His
ENST00000682933.1:n.3832C>A
ENST00000683002.1:c.610C>A
ENST00000683072.1:n.4342C>A
ENST00000683080.1:n.1377C>A
ENST00000683125.1:c.3866C>A	ENSP00000507939.1:p.Pro1289His
ENST00000683213.1:c.3761C>A	ENSP00000507751.1:p.Pro1254His
ENST00000683220.1:c.3788C>A	ENSP00000507151.1:p.Pro1263His
ENST00000683329.1:n.4561C>A
ENST00000683346.1:c.*3633C>A	ENSP00000507458.1:n.*3633C>A
ENST00000683409.1:n.2365C>A
ENST00000683459.1:n.4345C>A
ENST00000683528.1:c.686C>A
ENST00000683590.1:c.3506C>A	ENSP00000506820.1:p.Pro1169His
ENST00000683623.1:c.3665C>A	ENSP00000507702.1:p.Pro1222His
ENST00000683645.1:n.4309C>A
ENST00000683796.1:c.*3630C>A	ENSP00000508221.1:n.*3630C>A
ENST00000683802.1:n.6683C>A
ENST00000683833.1:c.3749C>A	ENSP00000506852.1:p.Pro1250His
ENST00000683994.1:c.3758C>A	ENSP00000507181.1:p.Pro1253His
ENST00000684290.1:c.*1294C>A	ENSP00000507243.1:n.*1294C>A
ENST00000684306.1:c.*3671C>A	ENSP00000508384.1:n.*3671C>A
ENST00000684341.1:n.3778C>A
ENST00000684383.1:c.*3396C>A	ENSP00000506863.1:n.*3396C>A
ENST00000684418.1:n.4939C>A
ENST00000684433.1:n.142C>A
ENST00000684454.1:n.3108C>A
ENST00000684619.1:c.*3630C>A	ENSP00000508088.1:n.*3630C>A
ENST00000684743.1:n.6503C>A
ENST00000260665.12:c.3758C>A MANE Select	ENSP00000260665.7:p.Pro1253His
ENST00000260665.11:c.3758C>A	ENSP00000260665.7:p.Pro1253His
ENST00000463456.5:n.2801C>A
ENST00000472420.5:n.155C>A
ENST00000483489.1:n.232C>A
NM_133259.3:c.3758C>A	NP_573566.2:p.Pro1253His
XM_006711915.2:c.3680C>A	XP_006711978.1:p.Pro1227His
XM_011532473.1:c.3758C>A	XP_011530775.1:p.Pro1253His
XM_011532474.1:c.3758C>A	XP_011530776.1:p.Pro1253His
XM_017003117.1:c.3680C>A	XP_016858606.1:p.Pro1227His
XR_002958896.1:n.3800C>A
NM_133259.4:c.3758C>A MANE Select	NP_573566.2:p.Pro1253His