Canonical Allele Identifier: CA346676314

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126359T>A (hg19) ; chr2:g.43899220T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899220T>A , CM000664.2:g.43899220T>A	GRCh38
NC_000002.11:g.44126359T>A , CM000664.1:g.44126359T>A	GRCh37
NC_000002.10:g.43979863T>A	NCBI36
NG_008247.1:g.101786A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.255A>T
ENST00000472420.6:n.903A>T
ENST00000483489.2:n.255A>T
ENST00000681993.1:n.1376A>T
ENST00000682303.1:c.*3610A>T	ENSP00000508325.1:n.*3610A>T
ENST00000682308.1:c.3824A>T	ENSP00000507056.1:p.Gln1275Leu
ENST00000682434.1:n.1375A>T
ENST00000682480.1:c.3842A>T	ENSP00000508344.1:p.Gln1281Leu
ENST00000682546.1:c.3821A>T	ENSP00000508188.1:p.Gln1274Leu
ENST00000682585.1:c.3824A>T	ENSP00000506885.1:p.Gln1275Leu
ENST00000682595.1:n.4408A>T
ENST00000682607.1:c.2242A>T
ENST00000682612.1:c.676A>T
ENST00000682779.1:c.3815A>T	ENSP00000507947.1:p.Gln1272Leu
ENST00000682885.1:c.3779A>T	ENSP00000508036.1:p.Gln1260Leu
ENST00000682933.1:n.3898A>T
ENST00000683002.1:c.676A>T
ENST00000683072.1:n.4408A>T
ENST00000683080.1:n.1443A>T
ENST00000683125.1:c.3932A>T	ENSP00000507939.1:p.Gln1311Leu
ENST00000683213.1:c.3827A>T	ENSP00000507751.1:p.Gln1276Leu
ENST00000683220.1:c.3854A>T	ENSP00000507151.1:p.Gln1285Leu
ENST00000683329.1:n.4627A>T
ENST00000683346.1:c.*3699A>T	ENSP00000507458.1:n.*3699A>T
ENST00000683409.1:n.2431A>T
ENST00000683459.1:n.4411A>T
ENST00000683528.1:c.752A>T
ENST00000683590.1:c.3572A>T	ENSP00000506820.1:p.Gln1191Leu
ENST00000683623.1:c.3731A>T	ENSP00000507702.1:p.Gln1244Leu
ENST00000683645.1:n.4375A>T
ENST00000683796.1:c.*3696A>T	ENSP00000508221.1:n.*3696A>T
ENST00000683833.1:c.3815A>T	ENSP00000506852.1:p.Gln1272Leu
ENST00000683994.1:c.3824A>T	ENSP00000507181.1:p.Gln1275Leu
ENST00000684290.1:c.*1360A>T	ENSP00000507243.1:n.*1360A>T
ENST00000684306.1:c.*3737A>T	ENSP00000508384.1:n.*3737A>T
ENST00000684341.1:n.3844A>T
ENST00000684383.1:c.*3462A>T	ENSP00000506863.1:n.*3462A>T
ENST00000684418.1:n.5005A>T
ENST00000684433.1:n.208A>T
ENST00000684454.1:n.3174A>T
ENST00000684619.1:c.*3696A>T	ENSP00000508088.1:n.*3696A>T
ENST00000684743.1:n.6569A>T
ENST00000260665.12:c.3824A>T MANE Select	ENSP00000260665.7:p.Gln1275Leu
ENST00000260665.11:c.3824A>T	ENSP00000260665.7:p.Gln1275Leu
ENST00000419884.5:c.65A>T	ENSP00000414207.1:p.Gln22Leu
ENST00000463456.5:n.2867A>T
ENST00000472420.5:n.221A>T
ENST00000483489.1:n.298A>T
NM_133259.3:c.3824A>T	NP_573566.2:p.Gln1275Leu
XM_006711915.2:c.3746A>T	XP_006711978.1:p.Gln1249Leu
XM_011532473.1:c.3824A>T	XP_011530775.1:p.Gln1275Leu
XM_011532474.1:c.3824A>T	XP_011530776.1:p.Gln1275Leu
XM_017003117.1:c.3746A>T	XP_016858606.1:p.Gln1249Leu
XR_002958896.1:n.3866A>T
NM_133259.4:c.3824A>T MANE Select	NP_573566.2:p.Gln1275Leu