Canonical Allele Identifier: CA346676489

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126402G>A (hg19) ; chr2:g.43899263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899263G>A , CM000664.2:g.43899263G>A	GRCh38
NC_000002.11:g.44126402G>A , CM000664.1:g.44126402G>A	GRCh37
NC_000002.10:g.43979906G>A	NCBI36
NG_008247.1:g.101743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.212C>T
ENST00000472420.6:n.860C>T
ENST00000483489.2:n.212C>T
ENST00000681993.1:n.1333C>T
ENST00000682303.1:c.*3567C>T	ENSP00000508325.1:n.*3567C>T
ENST00000682308.1:c.3781C>T	ENSP00000507056.1:p.Leu1261Phe
ENST00000682434.1:n.1332C>T
ENST00000682480.1:c.3799C>T	ENSP00000508344.1:p.Leu1267Phe
ENST00000682546.1:c.3778C>T	ENSP00000508188.1:p.Leu1260Phe
ENST00000682585.1:c.3781C>T	ENSP00000506885.1:p.Leu1261Phe
ENST00000682595.1:n.4365C>T
ENST00000682607.1:c.2199C>T
ENST00000682612.1:c.633C>T
ENST00000682779.1:c.3772C>T	ENSP00000507947.1:p.Leu1258Phe
ENST00000682845.1:n.2883C>T
ENST00000682885.1:c.3736C>T	ENSP00000508036.1:p.Leu1246Phe
ENST00000682933.1:n.3855C>T
ENST00000683002.1:c.633C>T
ENST00000683072.1:n.4365C>T
ENST00000683080.1:n.1400C>T
ENST00000683125.1:c.3889C>T	ENSP00000507939.1:p.Leu1297Phe
ENST00000683213.1:c.3784C>T	ENSP00000507751.1:p.Leu1262Phe
ENST00000683220.1:c.3811C>T	ENSP00000507151.1:p.Leu1271Phe
ENST00000683329.1:n.4584C>T
ENST00000683346.1:c.*3656C>T	ENSP00000507458.1:n.*3656C>T
ENST00000683409.1:n.2388C>T
ENST00000683459.1:n.4368C>T
ENST00000683528.1:c.709C>T
ENST00000683590.1:c.3529C>T	ENSP00000506820.1:p.Leu1177Phe
ENST00000683623.1:c.3688C>T	ENSP00000507702.1:p.Leu1230Phe
ENST00000683645.1:n.4332C>T
ENST00000683796.1:c.*3653C>T	ENSP00000508221.1:n.*3653C>T
ENST00000683802.1:n.6706C>T
ENST00000683833.1:c.3772C>T	ENSP00000506852.1:p.Leu1258Phe
ENST00000683994.1:c.3781C>T	ENSP00000507181.1:p.Leu1261Phe
ENST00000684290.1:c.*1317C>T	ENSP00000507243.1:n.*1317C>T
ENST00000684306.1:c.*3694C>T	ENSP00000508384.1:n.*3694C>T
ENST00000684341.1:n.3801C>T
ENST00000684383.1:c.*3419C>T	ENSP00000506863.1:n.*3419C>T
ENST00000684418.1:n.4962C>T
ENST00000684433.1:n.165C>T
ENST00000684454.1:n.3131C>T
ENST00000684619.1:c.*3653C>T	ENSP00000508088.1:n.*3653C>T
ENST00000684743.1:n.6526C>T
ENST00000260665.12:c.3781C>T MANE Select	ENSP00000260665.7:p.Leu1261Phe
ENST00000260665.11:c.3781C>T	ENSP00000260665.7:p.Leu1261Phe
ENST00000419884.5:c.22C>T	ENSP00000414207.1:p.Leu8Phe
ENST00000463456.5:n.2824C>T
ENST00000472420.5:n.178C>T
ENST00000483489.1:n.255C>T
NM_133259.3:c.3781C>T	NP_573566.2:p.Leu1261Phe
XM_006711915.2:c.3703C>T	XP_006711978.1:p.Leu1235Phe
XM_011532473.1:c.3781C>T	XP_011530775.1:p.Leu1261Phe
XM_011532474.1:c.3781C>T	XP_011530776.1:p.Leu1261Phe
XM_017003117.1:c.3703C>T	XP_016858606.1:p.Leu1235Phe
XR_002958896.1:n.3823C>T
NM_133259.4:c.3781C>T MANE Select	NP_573566.2:p.Leu1261Phe