Canonical Allele Identifier: CA346674719

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121692T>A (hg19) ; chr2:g.43894553T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894553T>A , CM000664.2:g.43894553T>A	GRCh38
NC_000002.11:g.44121692T>A , CM000664.1:g.44121692T>A	GRCh37
NC_000002.10:g.43975196T>A	NCBI36
NG_008247.1:g.106453A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.607A>T
ENST00000681993.1:n.1529A>T
ENST00000682154.1:n.1411A>T
ENST00000682303.1:c.*3688A>T	ENSP00000508325.1:n.*3688A>T
ENST00000682308.1:c.3902A>T	ENSP00000507056.1:p.Lys1301Ile
ENST00000682434.1:n.3532A>T
ENST00000682480.1:c.3995A>T	ENSP00000508344.1:p.Lys1332Ile
ENST00000682546.1:c.3974A>T	ENSP00000508188.1:p.Lys1325Ile
ENST00000682585.1:c.*105A>T	ENSP00000506885.1:n.*105A>T
ENST00000682607.1:c.2720A>T
ENST00000682612.1:c.752+2081A>T
ENST00000682696.1:c.77A>T	ENSP00000508411.1:p.Lys26Ile
ENST00000682779.1:c.3968A>T	ENSP00000507947.1:p.Lys1323Ile
ENST00000682885.1:c.3932A>T	ENSP00000508036.1:p.Lys1311Ile
ENST00000682933.1:n.4177A>T
ENST00000683002.1:c.829A>T
ENST00000683072.1:n.4561A>T
ENST00000683080.1:n.1596A>T
ENST00000683096.1:n.2418A>T
ENST00000683125.1:c.4085A>T	ENSP00000507939.1:p.Lys1362Ile
ENST00000683213.1:c.3980A>T	ENSP00000507751.1:p.Lys1327Ile
ENST00000683220.1:c.4007A>T	ENSP00000507151.1:p.Lys1336Ile
ENST00000683329.1:n.4780A>T
ENST00000683346.1:c.*3852A>T	ENSP00000507458.1:n.*3852A>T
ENST00000683409.1:n.2509A>T
ENST00000683459.1:n.4564A>T
ENST00000683590.1:c.3650A>T	ENSP00000506820.1:p.Lys1217Ile
ENST00000683623.1:c.3884A>T	ENSP00000507702.1:p.Lys1295Ile
ENST00000683796.1:c.*3774A>T	ENSP00000508221.1:n.*3774A>T
ENST00000683833.1:c.3893A>T	ENSP00000506852.1:p.Lys1298Ile
ENST00000683994.1:c.*90A>T	ENSP00000507181.1:n.*90A>T
ENST00000684290.1:c.*1438A>T	ENSP00000507243.1:n.*1438A>T
ENST00000684306.1:c.*3890A>T	ENSP00000508384.1:n.*3890A>T
ENST00000684383.1:c.*3615A>T	ENSP00000506863.1:n.*3615A>T
ENST00000684418.1:n.5158A>T
ENST00000684433.1:n.361A>T
ENST00000684454.1:n.7841A>T
ENST00000684619.1:c.*3849A>T	ENSP00000508088.1:n.*3849A>T
ENST00000684743.1:n.6722A>T
ENST00000260665.12:c.3977A>T MANE Select	ENSP00000260665.7:p.Lys1326Ile
ENST00000260665.11:c.3977A>T	ENSP00000260665.7:p.Lys1326Ile
ENST00000419884.5:c.218A>T	ENSP00000414207.1:p.Lys73Ile
ENST00000463456.5:n.3020A>T
NM_133259.3:c.3977A>T	NP_573566.2:p.Lys1326Ile
XM_006711915.2:c.3899A>T	XP_006711978.1:p.Lys1300Ile
XM_011532473.1:c.3902A>T	XP_011530775.1:p.Lys1301Ile
XM_011532474.1:c.3977A>T	XP_011530776.1:p.Lys1326Ile
XM_017003117.1:c.3824A>T	XP_016858606.1:p.Lys1275Ile
XR_002958896.1:n.4019A>T
NM_133259.4:c.3977A>T MANE Select	NP_573566.2:p.Lys1326Ile