Canonical Allele Identifier: CA346674844

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894596-G-T
• MyVariant Identifiers: chr2:g.44121735G>T (hg19) ; chr2:g.43894596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894596G>T , CM000664.2:g.43894596G>T	GRCh38
NC_000002.11:g.44121735G>T , CM000664.1:g.44121735G>T	GRCh37
NC_000002.10:g.43975239G>T	NCBI36
NG_008247.1:g.106410C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.564C>A
ENST00000681993.1:n.1486C>A
ENST00000682154.1:n.1368C>A
ENST00000682303.1:c.*3645C>A	ENSP00000508325.1:n.*3645C>A
ENST00000682308.1:c.3859C>A	ENSP00000507056.1:p.Pro1287Thr
ENST00000682434.1:n.3489C>A
ENST00000682480.1:c.3952C>A	ENSP00000508344.1:p.Pro1318Thr
ENST00000682546.1:c.3931C>A	ENSP00000508188.1:p.Pro1311Thr
ENST00000682585.1:c.*62C>A	ENSP00000506885.1:n.*62C>A
ENST00000682607.1:c.2677C>A
ENST00000682612.1:c.752+2038C>A
ENST00000682696.1:c.34C>A	ENSP00000508411.1:p.Pro12Thr
ENST00000682779.1:c.3925C>A	ENSP00000507947.1:p.Pro1309Thr
ENST00000682885.1:c.3889C>A	ENSP00000508036.1:p.Pro1297Thr
ENST00000682933.1:n.4134C>A
ENST00000683002.1:c.786C>A
ENST00000683072.1:n.4518C>A
ENST00000683080.1:n.1553C>A
ENST00000683096.1:n.2375C>A
ENST00000683125.1:c.4042C>A	ENSP00000507939.1:p.Pro1348Thr
ENST00000683213.1:c.3937C>A	ENSP00000507751.1:p.Pro1313Thr
ENST00000683220.1:c.3964C>A	ENSP00000507151.1:p.Pro1322Thr
ENST00000683329.1:n.4737C>A
ENST00000683346.1:c.*3809C>A	ENSP00000507458.1:n.*3809C>A
ENST00000683409.1:n.2466C>A
ENST00000683459.1:n.4521C>A
ENST00000683590.1:c.3607C>A	ENSP00000506820.1:p.Pro1203Thr
ENST00000683623.1:c.3841C>A	ENSP00000507702.1:p.Pro1281Thr
ENST00000683796.1:c.*3731C>A	ENSP00000508221.1:n.*3731C>A
ENST00000683833.1:c.3850C>A	ENSP00000506852.1:p.Pro1284Thr
ENST00000683994.1:c.*47C>A	ENSP00000507181.1:n.*47C>A
ENST00000684290.1:c.*1395C>A	ENSP00000507243.1:n.*1395C>A
ENST00000684306.1:c.*3847C>A	ENSP00000508384.1:n.*3847C>A
ENST00000684383.1:c.*3572C>A	ENSP00000506863.1:n.*3572C>A
ENST00000684418.1:n.5115C>A
ENST00000684433.1:n.318C>A
ENST00000684454.1:n.7798C>A
ENST00000684619.1:c.*3806C>A	ENSP00000508088.1:n.*3806C>A
ENST00000684743.1:n.6679C>A
ENST00000260665.12:c.3934C>A MANE Select	ENSP00000260665.7:p.Pro1312Thr
ENST00000260665.11:c.3934C>A	ENSP00000260665.7:p.Pro1312Thr
ENST00000419884.5:c.175C>A	ENSP00000414207.1:p.Pro59Thr
ENST00000463456.5:n.2977C>A
NM_133259.3:c.3934C>A	NP_573566.2:p.Pro1312Thr
XM_006711915.2:c.3856C>A	XP_006711978.1:p.Pro1286Thr
XM_011532473.1:c.3859C>A	XP_011530775.1:p.Pro1287Thr
XM_011532474.1:c.3934C>A	XP_011530776.1:p.Pro1312Thr
XM_017003117.1:c.3781C>A	XP_016858606.1:p.Pro1261Thr
XR_002958896.1:n.3976C>A
NM_133259.4:c.3934C>A MANE Select	NP_573566.2:p.Pro1312Thr