Canonical Allele Identifier: CA425908197

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905717-C-T
• COSMIC: COSM288752
• MyVariant Identifiers: chr2:g.44132856C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905717C>T , CM000664.2:g.43905717C>T	GRCh38
NC_000002.11:g.44132856C>T , CM000664.1:g.44132856C>T	GRCh37
NC_000002.10:g.43986360C>T	NCBI36
NG_008247.1:g.95289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.418G>A
ENST00000681993.1:n.891G>A
ENST00000682295.1:c.494G>A	ENSP00000507499.1:n.494G>A
ENST00000682303.1:c.*3125G>A	ENSP00000508325.1:n.*3125G>A
ENST00000682308.1:c.3339G>A	ENSP00000507056.1:p.Thr1113=
ENST00000682480.1:c.3357G>A	ENSP00000508344.1:p.Thr1119=
ENST00000682546.1:c.3336G>A	ENSP00000508188.1:p.Thr1112=
ENST00000682585.1:c.3339G>A	ENSP00000506885.1:p.Thr1113=
ENST00000682595.1:n.3923G>A
ENST00000682607.1:c.1757G>A
ENST00000682612.1:c.191G>A
ENST00000682779.1:c.3330G>A	ENSP00000507947.1:p.Thr1110=
ENST00000682845.1:n.2441G>A
ENST00000682885.1:c.3294G>A	ENSP00000508036.1:p.Thr1098=
ENST00000682933.1:n.3413G>A
ENST00000683002.1:c.191G>A
ENST00000683072.1:n.3923G>A
ENST00000683080.1:n.958G>A
ENST00000683125.1:c.3447G>A	ENSP00000507939.1:p.Thr1149=
ENST00000683213.1:c.3342G>A	ENSP00000507751.1:p.Thr1114=
ENST00000683220.1:c.3369G>A	ENSP00000507151.1:p.Thr1123=
ENST00000683329.1:n.4142G>A
ENST00000683346.1:c.*3214G>A	ENSP00000507458.1:n.*3214G>A
ENST00000683409.1:n.1946G>A
ENST00000683459.1:n.3926G>A
ENST00000683528.1:c.191G>A
ENST00000683590.1:c.3087G>A	ENSP00000506820.1:p.Thr1029=
ENST00000683623.1:c.3246G>A	ENSP00000507702.1:p.Thr1082=
ENST00000683645.1:n.3890G>A
ENST00000683796.1:c.*3211G>A	ENSP00000508221.1:n.*3211G>A
ENST00000683802.1:n.6264G>A
ENST00000683833.1:c.3330G>A	ENSP00000506852.1:p.Thr1110=
ENST00000683994.1:c.3339G>A	ENSP00000507181.1:p.Thr1113=
ENST00000684290.1:c.*875G>A	ENSP00000507243.1:n.*875G>A
ENST00000684306.1:c.*3252G>A	ENSP00000508384.1:n.*3252G>A
ENST00000684341.1:n.3359G>A
ENST00000684383.1:c.*2977G>A	ENSP00000506863.1:n.*2977G>A
ENST00000684418.1:n.4520G>A
ENST00000684454.1:n.2689G>A
ENST00000684619.1:c.*3211G>A	ENSP00000508088.1:n.*3211G>A
ENST00000684743.1:n.4370G>A
ENST00000260665.12:c.3339G>A MANE Select	ENSP00000260665.7:p.Thr1113=
ENST00000260665.11:c.3339G>A	ENSP00000260665.7:p.Thr1113=
NM_133259.3:c.3339G>A	NP_573566.2:p.Thr1113=
XM_006711915.2:c.3261G>A	XP_006711978.1:p.Thr1087=
XM_011532473.1:c.3339G>A	XP_011530775.1:p.Thr1113=
XM_011532474.1:c.3339G>A	XP_011530776.1:p.Thr1113=
XM_017003117.1:c.3261G>A	XP_016858606.1:p.Thr1087=
XR_002958896.1:n.3381G>A
NM_133259.4:c.3339G>A MANE Select	NP_573566.2:p.Thr1113=