Canonical Allele Identifier: CA346676563

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126419G>A (hg19) ; chr2:g.43899280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899280G>A , CM000664.2:g.43899280G>A	GRCh38
NC_000002.11:g.44126419G>A , CM000664.1:g.44126419G>A	GRCh37
NC_000002.10:g.43979923G>A	NCBI36
NG_008247.1:g.101726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.195C>T
ENST00000472420.6:n.843C>T
ENST00000483489.2:n.195C>T
ENST00000681993.1:n.1316C>T
ENST00000682303.1:c.*3550C>T	ENSP00000508325.1:n.*3550C>T
ENST00000682308.1:c.3764C>T	ENSP00000507056.1:p.Thr1255Ile
ENST00000682434.1:n.1315C>T
ENST00000682480.1:c.3782C>T	ENSP00000508344.1:p.Thr1261Ile
ENST00000682546.1:c.3761C>T	ENSP00000508188.1:p.Thr1254Ile
ENST00000682585.1:c.3764C>T	ENSP00000506885.1:p.Thr1255Ile
ENST00000682595.1:n.4348C>T
ENST00000682607.1:c.2182C>T
ENST00000682612.1:c.616C>T
ENST00000682779.1:c.3755C>T	ENSP00000507947.1:p.Thr1252Ile
ENST00000682845.1:n.2866C>T
ENST00000682885.1:c.3719C>T	ENSP00000508036.1:p.Thr1240Ile
ENST00000682933.1:n.3838C>T
ENST00000683002.1:c.616C>T
ENST00000683072.1:n.4348C>T
ENST00000683080.1:n.1383C>T
ENST00000683125.1:c.3872C>T	ENSP00000507939.1:p.Thr1291Ile
ENST00000683213.1:c.3767C>T	ENSP00000507751.1:p.Thr1256Ile
ENST00000683220.1:c.3794C>T	ENSP00000507151.1:p.Thr1265Ile
ENST00000683329.1:n.4567C>T
ENST00000683346.1:c.*3639C>T	ENSP00000507458.1:n.*3639C>T
ENST00000683409.1:n.2371C>T
ENST00000683459.1:n.4351C>T
ENST00000683528.1:c.692C>T
ENST00000683590.1:c.3512C>T	ENSP00000506820.1:p.Thr1171Ile
ENST00000683623.1:c.3671C>T	ENSP00000507702.1:p.Thr1224Ile
ENST00000683645.1:n.4315C>T
ENST00000683796.1:c.*3636C>T	ENSP00000508221.1:n.*3636C>T
ENST00000683802.1:n.6689C>T
ENST00000683833.1:c.3755C>T	ENSP00000506852.1:p.Thr1252Ile
ENST00000683994.1:c.3764C>T	ENSP00000507181.1:p.Thr1255Ile
ENST00000684290.1:c.*1300C>T	ENSP00000507243.1:n.*1300C>T
ENST00000684306.1:c.*3677C>T	ENSP00000508384.1:n.*3677C>T
ENST00000684341.1:n.3784C>T
ENST00000684383.1:c.*3402C>T	ENSP00000506863.1:n.*3402C>T
ENST00000684418.1:n.4945C>T
ENST00000684433.1:n.148C>T
ENST00000684454.1:n.3114C>T
ENST00000684619.1:c.*3636C>T	ENSP00000508088.1:n.*3636C>T
ENST00000684743.1:n.6509C>T
ENST00000260665.12:c.3764C>T MANE Select	ENSP00000260665.7:p.Thr1255Ile
ENST00000260665.11:c.3764C>T	ENSP00000260665.7:p.Thr1255Ile
ENST00000419884.5:c.5C>T	ENSP00000414207.1:p.Thr2Ile
ENST00000463456.5:n.2807C>T
ENST00000472420.5:n.161C>T
ENST00000483489.1:n.238C>T
NM_133259.3:c.3764C>T	NP_573566.2:p.Thr1255Ile
XM_006711915.2:c.3686C>T	XP_006711978.1:p.Thr1229Ile
XM_011532473.1:c.3764C>T	XP_011530775.1:p.Thr1255Ile
XM_011532474.1:c.3764C>T	XP_011530776.1:p.Thr1255Ile
XM_017003117.1:c.3686C>T	XP_016858606.1:p.Thr1229Ile
XR_002958896.1:n.3806C>T
NM_133259.4:c.3764C>T MANE Select	NP_573566.2:p.Thr1255Ile